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Gene: SLC26A5 (solute carrier family 26 member 5) Homo sapiens

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Symbol:

SLC26A5

Name:

solute carrier family 26 member 5

RGD ID:

1603482

HGNC Page

HGNC:9359

Description:

Enables protein homodimerization activity. Involved in sensory perception of sound. Located in lateral plasma membrane. Implicated in autosomal recessive nonsyndromic deafness 61.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DFNB61; MGC118886; MGC118887; MGC118888; MGC118889; PRES; prestin; prestin (motor protein); solute carrier family 26 (anion exchanger), member 5; solute carrier family 26, member 5; solute carrier family 26, member 5 (prestin)

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Slc26a5 (solute carrier family 26, member 5)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Slc26a5 (solute carrier family 26 member 5)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Slc26a5 (solute carrier family 26 member 5)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SLC26A5 (solute carrier family 26 member 5)	NCBI	Ortholog
Canis lupus familiaris (dog):	SLC26A5 (solute carrier family 26 member 5)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Slc26a5 (solute carrier family 26 member 5)	NCBI	Ortholog
Sus scrofa (pig):	SLC26A5 (solute carrier family 26 member 5)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	SLC26A5 (solute carrier family 26 member 5)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Slc26a5 (solute carrier family 26 member 5)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Slc26a5 (solute carrier family 26 member 5)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Slc26a5 (solute carrier family 26, member 5)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	slc26a5 (solute carrier family 26 member 5)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Prestin	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	YPR003C	Alliance	DIOPT (Hieranoid\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	sulp-2	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	sulp-3	Alliance	DIOPT (InParanoid\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	sulp-4	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	sulp-5	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	sulp-6	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	sulp-7	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	slc26a5	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Xenopus laevis (African clawed frog):	slc26a5.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	slc26a5.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	103,352,730 - 103,446,207 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	103,352,730 - 103,446,207 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	102,993,177 - 103,086,654 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	102,780,413 - 102,873,834 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	97,800,386 - 97,892,942 (-)	NCBI		Celera
Cytogenetic Map	7	q22.1	NCBI
HuRef	7	97,355,533 - 97,447,053 (-)	NCBI		HuRef
CHM1_1	7	102,926,169 - 103,019,937 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	104,667,171 - 104,760,648 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	102,353,543 - 102,447,443 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	Hearing Loss	no_association	IAGP		9479051	DNA:snp:intron:IVS2-2A>G (human)	RGD
SLC26A5	Human	Hearing Loss		ISO	Slc26a5 (Mus musculus)	9479049		RGD
SLC26A5	Human	Hearing Loss		IAGP		9479050	DNA:snp:intron:IVS2-2A>G (human)	RGD
SLC26A5	Human	Hearing Loss, Noise-Induced		ISO	Slc26a5 (Mus musculus)	9585684	mRNA and protein:increased expression:cochlea (mouse)	RGD
SLC26A5	Human	hypothyroidism		ISO	Slc26a5 (Mus musculus)	9585687	Secondary Hypothyroidism and protein:altered expression:cochlear outer hair cell (mouse)	RGD
SLC26A5	Human	hypothyroidism		ISO	Slc26a5 (Rattus norvegicus)	9585686	protein:altered expression:cochlear outer hair cell (rat)	RGD
SLC26A5	Human	Nonsyndromic Sensorineural Hearing Loss		IAGP		7364803	DNA:snp:intron:IVS2-2A>G (human)	RGD
SLC26A5	Human	Presbycusis		ISO	Slc26a5 (Rattus norvegicus)	9585690	protein:altered expression:cochlear outer hair cell (rat)	RGD
SLC26A5	Human	sensorineural hearing loss		ISO	Slc26a5 (Mus musculus)	9585667	mRNA:decreased expression:organ of Corti (mouse)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	autosomal recessive nonsyndromic deafness		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	ClinVar
SLC26A5	Human	autosomal recessive nonsyndromic deafness 61		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61	ClinVar	PMID:25741868
SLC26A5	Human	autosomal recessive nonsyndromic deafness 61		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: SLC26A5-related condition	ClinVar	PMID:28492532
SLC26A5	Human	autosomal recessive nonsyndromic deafness 61		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
SLC26A5	Human	autosomal recessive nonsyndromic deafness 61		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61	ClinVar	PMID:24164807
SLC26A5	Human	autosomal recessive nonsyndromic deafness 61		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61	ClinVar	PMID:12239568 more ...
SLC26A5	Human	autosomal recessive nonsyndromic deafness 61		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61	ClinVar	PMID:24033266 more ...
SLC26A5	Human	autosomal recessive nonsyndromic deafness 61		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:24033266 more ...
SLC26A5	Human	autosomal recessive nonsyndromic deafness 61		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61	ClinVar	PMID:12719379 more ...
SLC26A5	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
SLC26A5	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
SLC26A5	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
SLC26A5	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Recessive	ClinVar
SLC26A5	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:30311386
SLC26A5	Human	Norman-Roberts syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Norman-Roberts syndrome	ClinVar	PMID:10973257 more ...
SLC26A5	Human	Norman-Roberts syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Norman-Roberts syndrome	ClinVar	PMID:28492532
SLC26A5	Human	pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	Deafness		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12719379
SLC26A5	Human	Hearing Loss		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:34273409

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	autosomal recessive nonsyndromic deafness 61		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	2,3',4,4',5-Pentachlorobiphenyl	increases expression	ISO	Slc26a5 (Mus musculus)	6480464	2 more ...	CTD	PMID:31388691
SLC26A5	Human	acrylamide	decreases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	Acrylamide results in decreased expression of SLC26A5 mRNA	CTD	PMID:28959563
SLC26A5	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of SLC26A5 gene	CTD	PMID:27153756
SLC26A5	Human	all-trans-retinoic acid	multiple interactions	ISO	Slc26a5 (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of SLC26A5 mRNA	CTD	PMID:36189433
SLC26A5	Human	ammonium chloride	affects expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of SLC26A5 mRNA	CTD	PMID:16483693
SLC26A5	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of SLC26A5 promoter	CTD	PMID:27901495
SLC26A5	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of SLC26A5 5' UTR	CTD	PMID:27901495
SLC26A5	Human	bisphenol A	decreases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of SLC26A5 mRNA	CTD	PMID:25181051
SLC26A5	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of SLC26A5 mRNA	CTD	PMID:26079696
SLC26A5	Human	cadmium dichloride	increases methylation	ISO	Slc26a5 (Rattus norvegicus)	6480464	Cadmium Chloride results in increased methylation of SLC26A5 promoter	CTD	PMID:22457795
SLC26A5	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of SLC26A5 mRNA	CTD	PMID:38568856
SLC26A5	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to SLC26A5 gene]	CTD	PMID:28238834
SLC26A5	Human	ethylparaben	increases expression	EXP		6480464	ethyl-p-hydroxybenzoate results in increased expression of SLC26A5 mRNA	CTD	PMID:37690743
SLC26A5	Human	flavonoids	decreases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	Flavonoids results in decreased expression of SLC26A5 mRNA	CTD	PMID:18035473
SLC26A5	Human	gemfibrozil	decreases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	Gemfibrozil results in decreased expression of SLC26A5 mRNA	CTD	PMID:20006695
SLC26A5	Human	mono(2-ethylhexyl) phthalate	multiple interactions	ISO	Slc26a5 (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of SLC26A5 mRNA	CTD	PMID:36189433
SLC26A5	Human	potassium chloride	increases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	Potassium Chloride results in increased expression of SLC26A5 mRNA	CTD	PMID:21624428
SLC26A5	Human	potassium chloride	decreases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	Potassium Chloride results in decreased expression of SLC26A5 mRNA	CTD	PMID:21624428
SLC26A5	Human	sodium arsenite	decreases expression	ISO	Slc26a5 (Mus musculus)	6480464	sodium arsenite results in decreased expression of SLC26A5 mRNA	CTD	PMID:37682722
SLC26A5	Human	sodium chloride	decreases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	Sodium Chloride results in decreased expression of SLC26A5 mRNA	CTD	PMID:21624428
SLC26A5	Human	Sodium salicylate	increases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	Sodium Salicylate results in increased expression of SLC26A5 mRNA and Sodium Salicylate results in increased expression of SLC26A5 protein	CTD	PMID:19173110
SLC26A5	Human	tributylstannane	increases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	tributyltin results in increased expression of SLC26A5 mRNA	CTD	PMID:31129395
SLC26A5	Human	vinclozolin	decreases expression	ISO	Slc26a5 (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of SLC26A5 mRNA	CTD	PMID:23555832

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	bicarbonate transport	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	bicarbonate transport	involved_in	ISS	UniProtKB:Q9EPH0	150520179		UniProt	GO_REF:0000024
SLC26A5	Human	chloride transmembrane transport		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:11423665 and REF_RGD_ID:9479062
SLC26A5	Human	chloride transmembrane transport	involved_in	IBA	PANTHER:PTN000212046 more ...	150520179		GO_Central	GO_REF:0000033
SLC26A5	Human	chloride transmembrane transport	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	chloride transport	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	chloride transport	involved_in	ISS	UniProtKB:Q9EPH0	150520179		UniProt	GO_REF:0000024
SLC26A5	Human	cochlea development		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:20006695 and REF_RGD_ID:9479067
SLC26A5	Human	cochlea development	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	fructose transmembrane transport		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:12938672 and REF_RGD_ID:9585731
SLC26A5	Human	fructose transmembrane transport	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	monoatomic anion transmembrane transport		ISO	Slc26a5 (Rattus norvegicus)	9068941	SCN-	RGD	PMID:22063625 and REF_RGD_ID:9479065
SLC26A5	Human	monoatomic anion transmembrane transport	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	monoatomic ion transmembrane transport		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:11274441 and REF_RGD_ID:68832
SLC26A5	Human	monoatomic ion transmembrane transport	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	negative regulation of monoatomic ion transmembrane transport		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:15660259 and REF_RGD_ID:9586011
SLC26A5	Human	negative regulation of monoatomic ion transmembrane transport	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	oxalate transport	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	positive regulation of cell motility		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:11274441 and REF_RGD_ID:68832
SLC26A5	Human	positive regulation of cell motility	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	positive regulation of cell size		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:12938672 and REF_RGD_ID:9585731
SLC26A5	Human	positive regulation of cell size	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	regulation of cell shape	involved_in	IEA	UniProtKB-KW:KW-0133	150520179		UniProt	GO_REF:0000043
SLC26A5	Human	regulation of membrane potential	acts_upstream_of_or_within	IEA	UniProtKB:Q99NH7 and ensembl:ENSMUSP00000030878	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	response to auditory stimulus	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	response to auditory stimulus		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:17005342 and REF_RGD_ID:9479052
SLC26A5	Human	response to ischemia		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:15925203 and REF_RGD_ID:9479072
SLC26A5	Human	response to ischemia	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	response to potassium ion		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:21624428 and REF_RGD_ID:9479071
SLC26A5	Human	response to potassium ion	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	response to salicylic acid		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:19173110 and REF_RGD_ID:9479073
SLC26A5	Human	response to salicylic acid	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	response to salt		ISO	Slc26a5 (Rattus norvegicus)	9068941	NaCl	RGD	PMID:21624428 and REF_RGD_ID:9479071
SLC26A5	Human	response to salt	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	response to thyroid hormone		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:11867734 more ...
SLC26A5	Human	response to thyroid hormone	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	response to xenobiotic stimulus		ISO	Slc26a5 (Rattus norvegicus)	9068941	gemfibrozil	RGD	PMID:20006695 and REF_RGD_ID:9479067
SLC26A5	Human	response to xenobiotic stimulus	involved_in	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	sensory perception of sound	involved_in	IMP		150520179	PMID:12719379	UniProt	PMID:12719379
SLC26A5	Human	sensory perception of sound	involved_in	IEA	UniProtKB-KW:KW-1009	150520179		UniProt	GO_REF:0000043
SLC26A5	Human	sulfate transmembrane transport	involved_in	IEA	InterPro:IPR018045	150520179		InterPro	GO_REF:0000002
SLC26A5	Human	sulfate transmembrane transport	involved_in	IBA	FB:FBgn0036770 more ...	150520179		GO_Central	GO_REF:0000033
SLC26A5	Human	transmembrane transport	involved_in	IEA	InterPro:IPR001902	150520179		InterPro	GO_REF:0000002

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	basolateral plasma membrane		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:20525072 and REF_RGD_ID:9479076
SLC26A5	Human	basolateral plasma membrane	located_in	ISS	UniProtKB:Q9JKQ2	150520179		UniProt	GO_REF:0000024
SLC26A5	Human	basolateral plasma membrane	located_in	IEA	UniProtKB:Q99NH7 more ...	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	lateral plasma membrane		ISO	Slc26a5 (Rattus norvegicus)	9068941		RGD	PMID:11867734 and REF_RGD_ID:70328
SLC26A5	Human	lateral plasma membrane	located_in	IDA		150520179	PMID:12584604 and PMID:14553901	UniProt	PMID:12584604 and PMID:14553901
SLC26A5	Human	lateral plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0153	150520179		UniProt	GO_REF:0000044
SLC26A5	Human	lateral plasma membrane	located_in	IEA	UniProtKB:Q99NH7 more ...	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	lateral wall of outer hair cell	located_in	IEA	UniProtKB:Q99NH7 and ensembl:ENSMUSP00000030878	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	membrane	located_in	IEA	InterPro:IPR001902 and InterPro:IPR011547	150520179		InterPro	GO_REF:0000002
SLC26A5	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
SLC26A5	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
SLC26A5	Human	plasma membrane	is_active_in	IBA	MGI:1346029 more ...	150520179		GO_Central	GO_REF:0000033
SLC26A5	Human	plasma membrane	located_in	IEA	UniProtKB:Q99NH7 and ensembl:ENSMUSP00000030878	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	bicarbonate transmembrane transporter activity	enables	IBA	FB:FBgn0036770 more ...	150520179		GO_Central	GO_REF:0000033
SLC26A5	Human	chloride transmembrane transporter activity	enables	IBA	MGI:107181 more ...	150520179		GO_Central	GO_REF:0000033
SLC26A5	Human	chloride:bicarbonate antiporter activity	enables	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	chloride:bicarbonate antiporter activity	enables	ISS	UniProtKB:Q9EPH0	150520179		UniProt	GO_REF:0000024
SLC26A5	Human	identical protein binding		ISO	Slc26a5 (Rattus norvegicus)	9068941	homotetramerization	RGD	PMID:17998209 and REF_RGD_ID:9479070
SLC26A5	Human	identical protein binding	enables	IEA	UniProtKB:Q9EPH0 and ensembl:ENSRNOP00000015733	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	identical protein binding		ISO	Slc26a5 (Rattus norvegicus)	9068941	homodimerization	RGD	PMID:18073211 and REF_RGD_ID:9479057
SLC26A5	Human	oxalate transmembrane transporter activity	enables	IBA	FB:FBgn0036770 more ...	150520179		GO_Central	GO_REF:0000033
SLC26A5	Human	protein binding	enables	IPI	UniProtKB:Q9Y385	150520179	PMID:32296183	IntAct	PMID:32296183
SLC26A5	Human	protein homodimerization activity	enables	IDA		150520179	PMID:34390643	UniProt	PMID:34390643
SLC26A5	Human	secondary active sulfate transmembrane transporter activity	enables	IEA	InterPro:IPR018045	150520179		InterPro	GO_REF:0000002
SLC26A5	Human	spectrin binding	enables	IEA	UniProtKB:Q99NH7 and ensembl:ENSMUSP00000030878	150520179		Ensembl	GO_REF:0000107
SLC26A5	Human	sulfate transmembrane transporter activity	enables	IBA	FB:FBgn0036770 more ...	150520179		GO_Central	GO_REF:0000033
SLC26A5	Human	transcription factor binding		ISO	Zbtb16 (Rattus norvegicus)	9068941		RGD	PMID:15925207 and REF_RGD_ID:9479055

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	Hearing impairment		IAGP		7364803	DNA:snp:intron:IVS2-2A>G	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:613865
SLC26A5	Human	Sensorineural hearing impairment		IAGP		8699517		HPO	MIM:613865

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC26A5	Human	Hearing impairment		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:30311386
SLC26A5	Human	Pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358

#	Reference Title	Reference Citation
1.	Cochlear function in Prestin knockout mice.	Cheatham MA, etal., J Physiol. 2004 Nov 1;560(Pt 3):821-30. Epub 2004 Aug 19.
2.	Aging outer hair cells (OHCs) in the Fischer 344 rat cochlea: function and morphology.	Chen GD, etal., Hear Res. 2009 Feb;248(1-2):39-47. doi: 10.1016/j.heares.2008.11.010. Epub 2008 Dec 10.
3.	An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.	Lewis MA, etal., Nat Genet. 2009 May;41(5):614-8. doi: 10.1038/ng.369. Epub 2009 Apr 12.
4.	Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.	Liu XZ, etal., Hum Mol Genet. 2003 May 15;12(10):1155-62.
5.	Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China.	Lu Y, etal., J Biomed Res. 2011 Sep;25(5):309-18. doi: 10.1016/S1674-8301(11)60042-0.
6.	Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants.	Mustapha M, etal., J Neurosci. 2009 Jan 28;29(4):1212-23. doi: 10.1523/JNEUROSCI.4957-08.2009.
7.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
8.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
10.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11.	High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.	Tang HY, etal., BMC Med Genet. 2005 Aug 8;6:30.
12.	Thyroid hormone receptor alpha1 is a critical regulator for the expression of ion channels during final differentiation of outer hair cells.	Winter H, etal., Histochem Cell Biol. 2007 Jul;128(1):65-75. Epub 2007 May 23.
13.	Prestin regulation and function in residual outer hair cells after noise-induced hearing loss.	Xia A, etal., PLoS One. 2013 Dec 20;8(12):e82602. doi: 10.1371/journal.pone.0082602. eCollection 2013.

PMID:9847074	PMID:10821263	PMID:11087667	PMID:11423665	PMID:11581495	PMID:11836512	PMID:11867734	PMID:12239568	PMID:12477932	PMID:12584604	PMID:12853948	PMID:14553901
PMID:14747354	PMID:15140192	PMID:15660259	PMID:16344560	PMID:16873410	PMID:17151276	PMID:17786286	PMID:17933870	PMID:18073211	PMID:18567583	PMID:18988928	PMID:19027966
PMID:19492055	PMID:19515900	PMID:19737539	PMID:19926791	PMID:20301607	PMID:20471983	PMID:20668687	PMID:21813750	PMID:21873635	PMID:21975444	PMID:23212912	PMID:23506885
PMID:23542924	PMID:23660400	PMID:23665419	PMID:23762468	PMID:24138858	PMID:24453323	PMID:24647542	PMID:25920562	PMID:26283790	PMID:26903308	PMID:27041369	PMID:28422190
PMID:29777056	PMID:31053797	PMID:32296183	PMID:34273409	PMID:34390643	PMID:35064195	PMID:38237483	PMID:38431907	PMID:38474007

SLC26A5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	103,352,730 - 103,446,207 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	103,352,730 - 103,446,207 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	102,993,177 - 103,086,654 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	102,780,413 - 102,873,834 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	97,800,386 - 97,892,942 (-)	NCBI		Celera
Cytogenetic Map	7	q22.1	NCBI
HuRef	7	97,355,533 - 97,447,053 (-)	NCBI		HuRef
CHM1_1	7	102,926,169 - 103,019,937 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	104,667,171 - 104,760,648 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	102,353,543 - 102,447,443 (-)	NCBI

Slc26a5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	22,013,999 - 22,070,602 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	22,015,653 - 22,070,602 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	21,809,001 - 21,865,604 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	21,810,655 - 21,865,604 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	21,316,473 - 21,371,422 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	21,322,479 - 21,377,428 (-)	NCBI		MGSCv36	mm8
Celera	5	18,781,281 - 18,837,517 (-)	NCBI		Celera
Cytogenetic Map	5	A3	NCBI
cM Map	5	9.97	NCBI

Slc26a5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	14,102,492 - 14,141,520 (+)	NCBI		GRCr8
mRatBN7.2	4	13,210,260 - 13,249,289 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	13,210,260 - 13,249,289 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	18,355,676 - 18,394,701 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	14,172,343 - 14,209,428 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	12,541,325 - 12,580,338 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	9,795,811 - 9,860,904 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	9,821,541 - 9,860,571 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	9,822,682 - 9,861,708 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	8,657,314 - 8,697,539 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	8,657,313 - 8,697,539 (+)	NCBI
Celera	4	8,801,513 - 8,840,481 (+)	NCBI		Celera
Cytogenetic Map	4	q11	NCBI

Slc26a5
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955410	8,358,786 - 8,414,145 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955410	8,358,780 - 8,414,145 (-)	NCBI	ChiLan1.0	ChiLan1.0

SLC26A5
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	6	140,227,545 - 140,305,630 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	188,497,418 - 188,575,508 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	95,363,028 - 95,437,527 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	108,088,197 - 108,178,578 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	108,088,197 - 108,178,578 (-)	Ensembl	panpan1.1		panPan2

SLC26A5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	16,783,795 - 16,841,946 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	16,788,759 - 16,839,940 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	16,426,732 - 16,484,887 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	17,074,350 - 17,132,490 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	17,079,270 - 17,131,472 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	16,839,580 - 16,897,324 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	16,777,413 - 16,835,901 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	17,046,210 - 17,104,115 (+)	NCBI		UU_Cfam_GSD_1.0

Slc26a5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	58,980,819 - 59,021,086 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936479	20,104,595 - 20,144,601 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936479	20,104,625 - 20,145,392 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC26A5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	103,378,776 - 103,453,730 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	103,382,558 - 103,420,054 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	113,990,590 - 114,062,746 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLC26A5
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	21	72,347,276 - 72,418,311 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	72,347,792 - 72,393,765 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666042	31,608,735 - 31,657,804 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slc26a5
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624739	25,930,221 - 25,995,828 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624739	25,925,835 - 25,998,410 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in SLC26A5
274 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_198999.3(SLC26A5):c.-53-2A>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV000005607]\|not provided [RCV003311651]\|not specified [RCV000425160]	Chr7:103421569 [GRCh38] Chr7:103062016 [GRCh37] Chr7:7q22.1	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_198999.3(SLC26A5):c.117T>G (p.Pro39=)	single nucleotide variant	not provided [RCV000728668]	Chr7:103421398 [GRCh38] Chr7:103061845 [GRCh37] Chr7:7q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_206883.2(SLC26A5):c.293-3003A>G	single nucleotide variant	Lung cancer [RCV000097351]	Chr7:103416115 [GRCh38] Chr7:103056562 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV000083266]	Chr7:103413015 [GRCh38] Chr7:103053462 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV000083267]	Chr7:103420821 [GRCh38] Chr7:103061268 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala)	single nucleotide variant	not provided [RCV000911831]\|not specified [RCV000041658]	Chr7:103377772 [GRCh38] Chr7:103018219 [GRCh37] Chr7:7q22.1	benign\|likely benign
NM_198999.3(SLC26A5):c.-13A>C	single nucleotide variant	not provided [RCV001689597]\|not specified [RCV000041655]	Chr7:103421527 [GRCh38] Chr7:103061974 [GRCh37] Chr7:7q22.1	benign\|likely benign
NM_198999.3(SLC26A5):c.1233+14A>G	single nucleotide variant	not provided [RCV001787844]\|not specified [RCV000041656]	Chr7:103391608 [GRCh38] Chr7:103032055 [GRCh37] Chr7:7q22.1	benign\|likely benign
NM_198999.3(SLC26A5):c.1311+3G>T	single nucleotide variant	not specified [RCV000041657]	Chr7:103390426 [GRCh38] Chr7:103030873 [GRCh37] Chr7:7q22.1	uncertain significance
NM_206883.2(SLC26A5):c.292+8_292+9dup	duplication	not provided [RCV001668174]\|not specified [RCV000041659]	Chr7:103420728..103420729 [GRCh38] Chr7:103061176..103061177 [GRCh37] Chr7:7q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.403+14T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV001807768]\|not provided [RCV001682739]\|not specified [RCV000041660]	Chr7:103412988 [GRCh38] Chr7:103053435 [GRCh37] Chr7:7q22.1	benign\|likely benign
NM_198999.3(SLC26A5):c.498T>C (p.Asn166=)	single nucleotide variant	not provided [RCV001697035]\|not specified [RCV000041661]	Chr7:103411492 [GRCh38] Chr7:103051939 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV002504920]\|not provided [RCV000993011]\|not specified [RCV000041662]	Chr7:103393049 [GRCh38] Chr7:103033496 [GRCh37] Chr7:7q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity
GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	copy number gain	See cases [RCV000050705]	Chr7:101525795..105432462 [GRCh38] Chr7:101169076..105072909 [GRCh37] Chr7:100955796..104860145 [NCBI36] Chr7:7q22.1-22.3	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q22.1-22.3(chr7:101700341-105162893)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054156]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054156]\|See cases [RCV000054156]	Chr7:101700341..105162893 [GRCh38] Chr7:101343621..104803340 [GRCh37] Chr7:101130341..104590576 [NCBI36] Chr7:7q22.1-22.3	pathogenic
GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	copy number loss	See cases [RCV000054157]	Chr7:102808199..105701108 [GRCh38] Chr7:102448646..105341555 [GRCh37] Chr7:102235882..105128791 [NCBI36] Chr7:7q22.1-22.3	pathogenic
NM_206883.2(SLC26A5):c.1908G>A (p.Gly636=)	single nucleotide variant	Malignant melanoma [RCV000067555]	Chr7:103377677 [GRCh38] Chr7:103018124 [GRCh37] Chr7:102805360 [NCBI36] Chr7:7q22.1	not provided
NM_206883.2(SLC26A5):c.1720G>A (p.Ala574Thr)	single nucleotide variant	Malignant melanoma [RCV000067556]	Chr7:103378511 [GRCh38] Chr7:103018958 [GRCh37] Chr7:102806194 [NCBI36] Chr7:7q22.1	not provided
NM_206883.2(SLC26A5):c.1367C>T (p.Ser456Leu)	single nucleotide variant	Malignant melanoma [RCV000067557]	Chr7:103389369 [GRCh38] Chr7:103029816 [GRCh37] Chr7:102817052 [NCBI36] Chr7:7q22.1	not provided
GRCh38/hg38 7q22.1(chr7:103326703-103763175)x1	copy number loss	See cases [RCV000133830]	Chr7:103326703..103763175 [GRCh38] Chr7:102967150..103403622 [GRCh37] Chr7:102754386..103190858 [NCBI36] Chr7:7q22.1	uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	copy number gain	See cases [RCV000136717]	Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3	pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	copy number loss	See cases [RCV000137522]	Chr7:102196924..121278641 [GRCh38] Chr7:101912320..120918695 [GRCh37] Chr7:101626924..120705931 [NCBI36] Chr7:7q22.1-31.31	pathogenic
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=)	single nucleotide variant	not provided [RCV000887131]\|not specified [RCV000151913]	Chr7:103389401 [GRCh38] Chr7:103029848 [GRCh37] Chr7:7q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV000999789]\|SLC26A5-related disorder [RCV003927467]\|not provided [RCV000971218]\|not specified [RCV000151914]	Chr7:103421378 [GRCh38] Chr7:103421378..103421379 [GRCh38] Chr7:103061825 [GRCh37] Chr7:103061825..103061826 [GRCh37] Chr7:7q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_198999.3(SLC26A5):c.78G>A (p.Pro26=)	single nucleotide variant	not provided [RCV000827660]\|not specified [RCV000151915]	Chr7:103421437 [GRCh38] Chr7:103061884 [GRCh37] Chr7:7q22.1	benign\|likely benign\|uncertain significance
NM_198999.3(SLC26A5):c.1457A>G (p.Tyr486Cys)	single nucleotide variant	not specified [RCV000151912]	Chr7:103389065 [GRCh38] Chr7:103029512 [GRCh37] Chr7:7q22.1	not provided
NM_198999.3(SLC26A5):c.570+6G>A	single nucleotide variant	not provided [RCV000975161]\|not specified [RCV000155388]	Chr7:103411414 [GRCh38] Chr7:103051861 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.89A>G (p.Glu30Gly)	single nucleotide variant	not specified [RCV000155433]	Chr7:103421426 [GRCh38] Chr7:103061873 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1514+1G>A	single nucleotide variant	Nonsyndromic genetic hearing loss [RCV000155610]	Chr7:103389007 [GRCh38] Chr7:103029454 [GRCh37] Chr7:7q22.1	not provided
NM_198999.3(SLC26A5):c.2019T>C (p.Tyr673=)	single nucleotide variant	not provided [RCV002058487]\|not specified [RCV000253788]	Chr7:103376830 [GRCh38] Chr7:103017277 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.-172C>G	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000271430]	Chr7:103443201 [GRCh38] Chr7:103083648 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.153-10G>A	single nucleotide variant	not provided [RCV000909661]	Chr7:103420887 [GRCh38] Chr7:103061334 [GRCh37] Chr7:7q22.1	benign\|likely benign\|uncertain significance
NM_198999.3(SLC26A5):c.471C>T (p.Val157=)	single nucleotide variant	SLC26A5-related disorder [RCV003956793]\|not provided [RCV005064863]	Chr7:103411519 [GRCh38] Chr7:103051966 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_198999.3(SLC26A5):c.-157_-155del	deletion	Hearing loss, autosomal recessive [RCV004577907]	Chr7:103443184..103443186 [GRCh38] Chr7:103083631..103083633 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1590A>G (p.Lys530=)	single nucleotide variant	SLC26A5-related disorder [RCV003922585]\|not provided [RCV000897246]	Chr7:103379330 [GRCh38] Chr7:103019777 [GRCh37] Chr7:7q22.1	benign\|likely benign\|uncertain significance
NM_198999.3(SLC26A5):c.1693G>A (p.Ala565Thr)	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000377468]	Chr7:103378538 [GRCh38] Chr7:103018985 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.465T>C (p.Asp155=)	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000406101]	Chr7:103411525 [GRCh38] Chr7:103051972 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.-96T>A	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000322038]	Chr7:103443125 [GRCh38] Chr7:103083572 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV002488793]\|not provided [RCV000762472]	Chr7:103374568 [GRCh38] Chr7:103015015 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.518C>G (p.Ala173Gly)	single nucleotide variant	Inborn genetic diseases [RCV002693859]	Chr7:103411472 [GRCh38] Chr7:103051919 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1340A>G (p.Asn447Ser)	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000383034]	Chr7:103389396 [GRCh38] Chr7:103029843 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2204C>T (p.Pro735Leu)	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000263738]	Chr7:103374430 [GRCh38] Chr7:103014877 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.-74T>C	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000361472]	Chr7:103443103 [GRCh38] Chr7:103083550 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1653G>T (p.Leu551Phe)	single nucleotide variant	Inborn genetic diseases [RCV002723671]	Chr7:103379267 [GRCh38] Chr7:103019714 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2177C>T (p.Ala726Val)	single nucleotide variant	Inborn genetic diseases [RCV002539809]\|not provided [RCV001732422]	Chr7:103374457 [GRCh38] Chr7:103014904 [GRCh37] Chr7:7q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_198999.3(SLC26A5):c.775G>A (p.Val259Met)	single nucleotide variant	Hearing impairment [RCV001375293]\|not provided [RCV000735070]	Chr7:103407964 [GRCh38] Chr7:103048411 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.*137C>T	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000393210]	Chr7:103374262 [GRCh38] Chr7:103014709 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2042-10C>T	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000260118]	Chr7:103374602 [GRCh38] Chr7:103015049 [GRCh37] Chr7:7q22.1	uncertain significance
Single allele	single nucleotide variant	not provided [RCV000315072]	Chr7:103062014 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1409C>A (p.Thr470Asn)	single nucleotide variant	not provided [RCV000295637]	Chr7:103389113 [GRCh38] Chr7:103029560 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.-80G>A	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000266888]	Chr7:103443109 [GRCh38] Chr7:103083556 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.404-25G>T	single nucleotide variant	not provided [RCV001567897]	Chr7:103411611 [GRCh38] Chr7:103052058 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys)	single nucleotide variant	not provided [RCV000596580]	Chr7:103377757 [GRCh38] Chr7:103018204 [GRCh37] Chr7:7q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_198999.3(SLC26A5):c.-231G>T	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000381050]	Chr7:103446146 [GRCh38] Chr7:103086593 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.472A>G (p.Ile158Val)	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000294904]	Chr7:103411518 [GRCh38] Chr7:103051965 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.*75G>A	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000367437]	Chr7:103374324 [GRCh38] Chr7:103014771 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1119+6G>C	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000288652]	Chr7:103392913 [GRCh38] Chr7:103033360 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.*92A>G	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000312755]	Chr7:103374307 [GRCh38] Chr7:103014754 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.-191C>T	single nucleotide variant	Nonsyndromic Hearing Loss, Recessive [RCV000328789]	Chr7:103446106 [GRCh38] Chr7:103086553 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2067G>T (p.Arg689=)	single nucleotide variant	not provided [RCV000591210]	Chr7:103374567 [GRCh38] Chr7:103015014 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.13G>C (p.Glu5Gln)	single nucleotide variant	not provided [RCV000757779]	Chr7:103421502 [GRCh38] Chr7:103061949 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1658G>A (p.Ser553Asn)	single nucleotide variant	not provided [RCV000757780]	Chr7:103379262 [GRCh38] Chr7:103019709 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.889-5T>C	single nucleotide variant	not specified [RCV000426027]	Chr7:103398019 [GRCh38] Chr7:103038466 [GRCh37] Chr7:7q22.1	likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3	copy number gain	See cases [RCV000447709]	Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_198999.3(SLC26A5):c.888+8A>G	single nucleotide variant	not provided [RCV000598021]	Chr7:103407843 [GRCh38] Chr7:103048290 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His)	single nucleotide variant	Inborn genetic diseases [RCV004024767]\|SLC26A5-related disorder [RCV004758707]\|not provided [RCV000596540]	Chr7:103377641 [GRCh38] Chr7:103018088 [GRCh37] Chr7:7q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 7q22.1-22.3(chr7:102910570-105104800)x1	copy number loss	not provided [RCV000682896]	Chr7:102910570..105104800 [GRCh37] Chr7:7q22.1-22.3	likely pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	copy number gain	not provided [RCV000682911]	Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
NM_198999.3(SLC26A5):c.2042-125dup	duplication	not provided [RCV001546065]	Chr7:103374705..103374706 [GRCh38] Chr7:103015152..103015153 [GRCh37] Chr7:7q22.1	likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	inversion	Childhood apraxia of speech [RCV000234948]	Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_198999.3(SLC26A5):c.971+29G>T	single nucleotide variant	not provided [RCV001534401]	Chr7:103397903 [GRCh38] Chr7:103038350 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.636G>T (p.Gly212=)	single nucleotide variant	not provided [RCV000936423]	Chr7:103410484 [GRCh38] Chr7:103050931 [GRCh37] Chr7:7q22.1	likely benign\|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.1515-43G>A	single nucleotide variant	not provided [RCV001586664]	Chr7:103380592 [GRCh38] Chr7:103021039 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.404-45A>G	single nucleotide variant	not provided [RCV001565262]	Chr7:103411631 [GRCh38] Chr7:103052078 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1070T>C (p.Met357Thr)	single nucleotide variant	not provided [RCV002001580]	Chr7:103392968 [GRCh38] Chr7:103033415 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2042-5A>G	single nucleotide variant	not provided [RCV000900376]	Chr7:103374597 [GRCh38] Chr7:103015044 [GRCh37] Chr7:7q22.1	benign\|likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_198999.3(SLC26A5):c.1312-1G>C	single nucleotide variant	Deafness, autosomal recessive 61 [RCV000778805]	Chr7:103389425 [GRCh38] Chr7:103029872 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.448C>T (p.Arg150Ter)	single nucleotide variant	not provided [RCV003720356]	Chr7:103411542 [GRCh38] Chr7:103051989 [GRCh37] Chr7:7q22.1	pathogenic\|uncertain significance
NM_198999.3(SLC26A5):c.741A>G (p.Thr247=)	single nucleotide variant	not provided [RCV000904062]	Chr7:103407998 [GRCh38] Chr7:103048445 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1515-44C>T	single nucleotide variant	not provided [RCV000835596]	Chr7:103380593 [GRCh38] Chr7:103021040 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.684T>C (p.Tyr228=)	single nucleotide variant	not provided [RCV000826985]	Chr7:103410436 [GRCh38] Chr7:103050883 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.864G>A (p.Ala288=)	single nucleotide variant	not provided [RCV000842195]	Chr7:103407875 [GRCh38] Chr7:103048322 [GRCh37] Chr7:7q22.1	likely benign
GRCh37/hg19 7q22.1(chr7:102333119-103158261)x3	copy number gain	not provided [RCV000847426]	Chr7:102333119..103158261 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1712G>C (p.Arg571Thr)	single nucleotide variant	Inborn genetic diseases [RCV003239559]	Chr7:103378519 [GRCh38] Chr7:103018966 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1119+198C>T	single nucleotide variant	not provided [RCV001577884]	Chr7:103392721 [GRCh38] Chr7:103033168 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1515-252G>A	single nucleotide variant	not provided [RCV001567193]	Chr7:103380801 [GRCh38] Chr7:103021248 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.971+215del	deletion	not provided [RCV001673776]	Chr7:103397717 [GRCh38] Chr7:103038164 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.571-283A>G	single nucleotide variant	not provided [RCV001698692]	Chr7:103410832 [GRCh38] Chr7:103051279 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.971+179_971+180del	deletion	not provided [RCV001610048]	Chr7:103397752..103397753 [GRCh38] Chr7:103038199..103038200 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1585-163dup	duplication	not provided [RCV001679087]	Chr7:103379483..103379484 [GRCh38] Chr7:103019930..103019931 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1786-232A>G	single nucleotide variant	not provided [RCV001561010]	Chr7:103378031 [GRCh38] Chr7:103018478 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1312-44T>C	single nucleotide variant	not provided [RCV001637459]	Chr7:103389468 [GRCh38] Chr7:103029915 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.2184T>G (p.Pro728=)	single nucleotide variant	not provided [RCV001661168]	Chr7:103374450 [GRCh38] Chr7:103014897 [GRCh37] Chr7:7q22.1	benign\|likely benign
NM_198999.3(SLC26A5):c.570+86C>T	single nucleotide variant	not provided [RCV001717816]	Chr7:103411334 [GRCh38] Chr7:103051781 [GRCh37] Chr7:7q22.1	benign
NM_206883.3(SLC26A5):c.2041+2628G>T	single nucleotide variant	not provided [RCV001551120]	Chr7:103374180 [GRCh38] Chr7:103014627 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1234-218A>G	single nucleotide variant	not provided [RCV001696451]	Chr7:103390724 [GRCh38] Chr7:103031171 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.2042-85del	deletion	not provided [RCV001656254]	Chr7:103374677 [GRCh38] Chr7:103015124 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.403+151C>T	single nucleotide variant	not provided [RCV001669604]	Chr7:103412851 [GRCh38] Chr7:103053298 [GRCh37] Chr7:7q22.1	benign
NC_000007.14:g.103352648G>T	single nucleotide variant	not provided [RCV001557367]	Chr7:103352648 [GRCh38] Chr7:102993095 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1119+272C>T	single nucleotide variant	not provided [RCV001572526]	Chr7:103392647 [GRCh38] Chr7:103033094 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1312-76G>A	single nucleotide variant	not provided [RCV001650171]	Chr7:103389500 [GRCh38] Chr7:103029947 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.*28A>G	single nucleotide variant	not provided [RCV001558903]	Chr7:103374371 [GRCh38] Chr7:103014818 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.971+200_971+202dup	duplication	not provided [RCV001650721]	Chr7:103397716..103397717 [GRCh38] Chr7:103038163..103038164 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1312-17G>T	single nucleotide variant	not provided [RCV001592741]	Chr7:103389441 [GRCh38] Chr7:103029888 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.971+200dup	duplication	not provided [RCV001708266]	Chr7:103397716..103397717 [GRCh38] Chr7:103038163..103038164 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1311+295G>A	single nucleotide variant	not provided [RCV001657254]	Chr7:103390134 [GRCh38] Chr7:103030581 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.2175G>A (p.Ser725=)	single nucleotide variant	not provided [RCV000931692]	Chr7:103374459 [GRCh38] Chr7:103014906 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1302A>G (p.Ser434=)	single nucleotide variant	not provided [RCV000897025]	Chr7:103390438 [GRCh38] Chr7:103030885 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.399C>T (p.Ser133=)	single nucleotide variant	not provided [RCV000911183]	Chr7:103413006 [GRCh38] Chr7:103053453 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.971+283C>T	single nucleotide variant	not provided [RCV001561761]	Chr7:103397649 [GRCh38] Chr7:103038096 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.2079T>C (p.Phe693=)	single nucleotide variant	not provided [RCV001562217]	Chr7:103374555 [GRCh38] Chr7:103015002 [GRCh37] Chr7:7q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_198999.3(SLC26A5):c.585C>T (p.Val195=)	single nucleotide variant	not provided [RCV001567268]	Chr7:103410535 [GRCh38] Chr7:103050982 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.972-326G>A	single nucleotide variant	not provided [RCV001570731]	Chr7:103393392 [GRCh38] Chr7:103033839 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.571-12dup	duplication	not provided [RCV001559500]	Chr7:103410552..103410553 [GRCh38] Chr7:103050999..103051000 [GRCh37] Chr7:7q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_198999.3(SLC26A5):c.1487T>C (p.Leu496Pro)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV004821428]	Chr7:103389035 [GRCh38] Chr7:103029482 [GRCh37] Chr7:7q22.1	uncertain significance
NC_000007.14:g.103352638C>T	single nucleotide variant	not provided [RCV001656809]	Chr7:103352638 [GRCh38] Chr7:102993085 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.2042-95dup	duplication	not provided [RCV001695666]	Chr7:103374676..103374677 [GRCh38] Chr7:103015123..103015124 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.972-244C>T	single nucleotide variant	not provided [RCV001659425]	Chr7:103393310 [GRCh38] Chr7:103033757 [GRCh37] Chr7:7q22.1	benign
NM_206883.3(SLC26A5):c.2041+2675T>C	single nucleotide variant	not provided [RCV001716548]	Chr7:103374133 [GRCh38] Chr7:103014580 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1233+292A>G	single nucleotide variant	not provided [RCV001659540]	Chr7:103391330 [GRCh38] Chr7:103031777 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.736-273G>C	single nucleotide variant	not provided [RCV001649202]	Chr7:103408276 [GRCh38] Chr7:103048723 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.888+217_888+218del	microsatellite	not provided [RCV001686620]	Chr7:103407633..103407634 [GRCh38] Chr7:103048080..103048081 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.404-131A>G	single nucleotide variant	not provided [RCV001545152]	Chr7:103411717 [GRCh38] Chr7:103052164 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.293-318G>A	single nucleotide variant	not provided [RCV001673484]	Chr7:103413430 [GRCh38] Chr7:103053877 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1120-257G>A	single nucleotide variant	not provided [RCV001715246]	Chr7:103391992 [GRCh38] Chr7:103032439 [GRCh37] Chr7:7q22.1	benign
NC_000007.14:g.103352579A>G	single nucleotide variant	not provided [RCV001657096]	Chr7:103352579 [GRCh38] Chr7:102993026 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.735+303A>G	single nucleotide variant	not provided [RCV001681739]	Chr7:103410082 [GRCh38] Chr7:103050529 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1311+212G>C	single nucleotide variant	not provided [RCV001711015]	Chr7:103390217 [GRCh38] Chr7:103030664 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.2041+107T>C	single nucleotide variant	not provided [RCV001680918]	Chr7:103376701 [GRCh38] Chr7:103017148 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1514+187A>G	single nucleotide variant	not provided [RCV001614117]	Chr7:103388821 [GRCh38] Chr7:103029268 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.949del (p.Val317fs)	deletion	Autosomal recessive nonsyndromic hearing loss 61 [RCV001619766]\|not provided [RCV003718417]	Chr7:103397954 [GRCh38] Chr7:103038401 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.889-85C>G	single nucleotide variant	not provided [RCV001690796]	Chr7:103398099 [GRCh38] Chr7:103038546 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.2041+232G>A	single nucleotide variant	not provided [RCV001612806]	Chr7:103376576 [GRCh38] Chr7:103017023 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1616A>G (p.Gln539Arg)	single nucleotide variant	Inborn genetic diseases [RCV004683627]	Chr7:103379304 [GRCh38] Chr7:103019751 [GRCh37] Chr7:7q22.1	uncertain significance
NM_002803.4(PSMC2):c.1234G>T (p.Ala412Ser)	single nucleotide variant	not specified [RCV004666764]	Chr7:103367986 [GRCh38] Chr7:103008433 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.52G>A (p.Val18Met)	single nucleotide variant	Inborn genetic diseases [RCV004683628]	Chr7:103421463 [GRCh38] Chr7:103061910 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.28C>T (p.Leu10Phe)	single nucleotide variant	not provided [RCV001288433]	Chr7:103421487 [GRCh38] Chr7:103061934 [GRCh37] Chr7:7q22.1	uncertain significance
NM_002803.4(PSMC2):c.751G>T (p.Gly251Cys)	single nucleotide variant	not provided [RCV001280764]	Chr7:103364302 [GRCh38] Chr7:103004749 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV001336160]\|Inborn genetic diseases [RCV004035805]	Chr7:103421423 [GRCh38] Chr7:103061870 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.292+8_292+9insGA	insertion	Deafness, autosomal recessive 61 [RCV001286721]	Chr7:103420729..103420730 [GRCh38] Chr7:103061176..103061177 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1849C>T (p.Pro617Ser)	single nucleotide variant	not provided [RCV001427528]	Chr7:103377736 [GRCh38] Chr7:103018183 [GRCh37] Chr7:7q22.1	likely benign\|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.1986+30T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV001810151]\|not provided [RCV001619415]	Chr7:103377569 [GRCh38] Chr7:103018016 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1233+143G>A	single nucleotide variant	not provided [RCV001715489]	Chr7:103391479 [GRCh38] Chr7:103031926 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1677+77T>C	single nucleotide variant	not provided [RCV001527916]	Chr7:103379166 [GRCh38] Chr7:103019613 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1244G>T (p.Cys415Phe)	single nucleotide variant	Inborn genetic diseases [RCV004671410]\|not provided [RCV001503736]	Chr7:103390496 [GRCh38] Chr7:103030943 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_198999.3(SLC26A5):c.1678-323G>C	single nucleotide variant	not provided [RCV001651969]	Chr7:103378876 [GRCh38] Chr7:103019323 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.571-321A>G	single nucleotide variant	not provided [RCV001716554]	Chr7:103410870 [GRCh38] Chr7:103051317 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.972-60A>G	single nucleotide variant	not provided [RCV001650396]	Chr7:103393126 [GRCh38] Chr7:103033573 [GRCh37] Chr7:7q22.1	benign
NM_002803.4(PSMC2):c.154A>T (p.Ile52Phe)	single nucleotide variant	not specified [RCV004309384]	Chr7:103354913 [GRCh38] Chr7:102995360 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1299A>C (p.Glu433Asp)	single nucleotide variant	not provided [RCV001733099]	Chr7:103390441 [GRCh38] Chr7:103030888 [GRCh37] Chr7:7q22.1	uncertain significance
NM_206883.3(SLC26A5):c.2042-9101dup	duplication	not provided [RCV001752729]	Chr7:103362026..103362027 [GRCh38] Chr7:103002473..103002474 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1119+1G>A	single nucleotide variant	not provided [RCV001761093]	Chr7:103392918 [GRCh38] Chr7:103033365 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.*2T>A	single nucleotide variant	not provided [RCV001797258]	Chr7:103374397 [GRCh38] Chr7:103014844 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.863C>T (p.Ala288Val)	single nucleotide variant	not provided [RCV001874810]	Chr7:103407876 [GRCh38] Chr7:103048323 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1324G>A (p.Ala442Thr)	single nucleotide variant	not provided [RCV001915130]	Chr7:103389412 [GRCh38] Chr7:103029859 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1555G>A (p.Val519Met)	single nucleotide variant	Inborn genetic diseases [RCV004044312]\|not provided [RCV001929316]	Chr7:103380509 [GRCh38] Chr7:103020956 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1907G>A (p.Gly636Glu)	single nucleotide variant	Inborn genetic diseases [RCV003167002]\|SLC26A5-related disorder [RCV004758839]\|not provided [RCV001927317]	Chr7:103377678 [GRCh38] Chr7:103018125 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1735G>A (p.Ala579Thr)	single nucleotide variant	not provided [RCV001964597]	Chr7:103378496 [GRCh38] Chr7:103018943 [GRCh37] Chr7:7q22.1	uncertain significance
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	copy number loss	not specified [RCV002053711]	Chr7:99417471..111586308 [GRCh37] Chr7:7q22.1-31.1	pathogenic
NM_198999.3(SLC26A5):c.1061C>A (p.Thr354Asn)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV002490115]\|not provided [RCV001892844]	Chr7:103392977 [GRCh38] Chr7:103033424 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.832T>C (p.Phe278Leu)	single nucleotide variant	not provided [RCV001911012]	Chr7:103407907 [GRCh38] Chr7:103048354 [GRCh37] Chr7:7q22.1	uncertain significance
GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	copy number loss	not specified [RCV002053712]	Chr7:100676872..119156160 [GRCh37] Chr7:7q22.1-31.31	pathogenic
NM_198999.3(SLC26A5):c.2212A>T (p.Thr738Ser)	single nucleotide variant	not provided [RCV001900361]	Chr7:103374422 [GRCh38] Chr7:103014869 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.40C>A (p.Gln14Lys)	single nucleotide variant	not provided [RCV001977220]	Chr7:103421475 [GRCh38] Chr7:103061922 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1311+1G>T	single nucleotide variant	not provided [RCV002019984]	Chr7:103390428 [GRCh38] Chr7:103030875 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_198999.3(SLC26A5):c.1120-2A>G	single nucleotide variant	not provided [RCV001990407]	Chr7:103391737 [GRCh38] Chr7:103032184 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_198999.3(SLC26A5):c.2000A>G (p.Tyr667Cys)	single nucleotide variant	not provided [RCV002000257]	Chr7:103376849 [GRCh38] Chr7:103017296 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.160C>G (p.Pro54Ala)	single nucleotide variant	not provided [RCV001880535]	Chr7:103420870 [GRCh38] Chr7:103061317 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1572_1580del (p.Asp524_Tyr526del)	deletion	not provided [RCV001903852]	Chr7:103380484..103380492 [GRCh38] Chr7:103020931..103020939 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1939A>G (p.Thr647Ala)	single nucleotide variant	not provided [RCV002029130]	Chr7:103377646 [GRCh38] Chr7:103018093 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.860C>T (p.Pro287Leu)	single nucleotide variant	not provided [RCV001925627]	Chr7:103407879 [GRCh38] Chr7:103048326 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2206A>C (p.Asn736His)	single nucleotide variant	not provided [RCV002049614]	Chr7:103374428 [GRCh38] Chr7:103014875 [GRCh37] Chr7:7q22.1	uncertain significance
NC_000007.13:g.(?_102937907)_(103151472_?)dup	duplication	Norman-Roberts syndrome [RCV001920573]	Chr7:102937907..103151472 [GRCh37] Chr7:7q22.1	uncertain significance
NC_000007.13:g.(?_102937907)_(103629803_?)del	deletion	Norman-Roberts syndrome [RCV001951338]	Chr7:102937907..103629803 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.1150A>C (p.Ile384Leu)	single nucleotide variant	Inborn genetic diseases [RCV002555688]\|not provided [RCV001937739]	Chr7:103391705 [GRCh38] Chr7:103032152 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1311+13T>C	single nucleotide variant	not provided [RCV002130490]	Chr7:103390416 [GRCh38] Chr7:103030863 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.888+17del	deletion	not provided [RCV002170107]	Chr7:103407834 [GRCh38] Chr7:103048281 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.2010C>A (p.Val670=)	single nucleotide variant	not provided [RCV002109394]	Chr7:103376839 [GRCh38] Chr7:103017286 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1170C>G (p.Thr390=)	single nucleotide variant	not provided [RCV002208624]	Chr7:103391685 [GRCh38] Chr7:103032132 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1734C>T (p.Tyr578=)	single nucleotide variant	not provided [RCV002089093]	Chr7:103378497 [GRCh38] Chr7:103018944 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1746C>T (p.Val582=)	single nucleotide variant	not provided [RCV002170426]	Chr7:103378485 [GRCh38] Chr7:103018932 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.2121T>C (p.His707=)	single nucleotide variant	not provided [RCV002151038]	Chr7:103374513 [GRCh38] Chr7:103014960 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.571-16C>T	single nucleotide variant	not provided [RCV002135376]	Chr7:103410565 [GRCh38] Chr7:103051012 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.2041+15A>G	single nucleotide variant	not provided [RCV002142810]	Chr7:103376793 [GRCh38] Chr7:103017240 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.152+11T>C	single nucleotide variant	not provided [RCV002179126]	Chr7:103421352 [GRCh38] Chr7:103061799 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1234-10T>C	single nucleotide variant	not provided [RCV002183147]	Chr7:103390516 [GRCh38] Chr7:103030963 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.790G>A (p.Val264Ile)	single nucleotide variant	not provided [RCV002475188]	Chr7:103407949 [GRCh38] Chr7:103048396 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.888+14G>T	single nucleotide variant	not provided [RCV002903172]	Chr7:103407837 [GRCh38] Chr7:103048284 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.855del (p.Lys285fs)	deletion	not provided [RCV002866077]	Chr7:103407884 [GRCh38] Chr7:103048331 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.1104G>T (p.Gln368His)	single nucleotide variant	Inborn genetic diseases [RCV002817252]	Chr7:103392934 [GRCh38] Chr7:103033381 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1441T>A (p.Phe481Ile)	single nucleotide variant	Inborn genetic diseases [RCV002906801]	Chr7:103389081 [GRCh38] Chr7:103029528 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.293G>C (p.Gly98Ala)	single nucleotide variant	not provided [RCV002754935]	Chr7:103413112 [GRCh38] Chr7:103053559 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_198999.3(SLC26A5):c.404-1G>C	single nucleotide variant	not provided [RCV002866605]	Chr7:103411587 [GRCh38] Chr7:103052034 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_198999.3(SLC26A5):c.1584+16A>G	single nucleotide variant	not provided [RCV002638895]	Chr7:103380464 [GRCh38] Chr7:103020911 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.270A>C (p.Thr90=)	single nucleotide variant	not provided [RCV003039452]	Chr7:103420760 [GRCh38] Chr7:103061207 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.403G>A (p.Gly135Ser)	single nucleotide variant	not provided [RCV002866606]	Chr7:103413002 [GRCh38] Chr7:103053449 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1905A>G (p.Pro635=)	single nucleotide variant	not provided [RCV002620384]	Chr7:103377680 [GRCh38] Chr7:103018127 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1986+3A>T	single nucleotide variant	not provided [RCV002756913]	Chr7:103377596 [GRCh38] Chr7:103018043 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1441T>C (p.Phe481Leu)	single nucleotide variant	Inborn genetic diseases [RCV002998336]	Chr7:103389081 [GRCh38] Chr7:103029528 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1244G>A (p.Cys415Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002869527]	Chr7:103390496 [GRCh38] Chr7:103030943 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2008G>A (p.Val670Ile)	single nucleotide variant	Inborn genetic diseases [RCV002984919]	Chr7:103376841 [GRCh38] Chr7:103017288 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.892G>A (p.Val298Ile)	single nucleotide variant	Inborn genetic diseases [RCV002768524]	Chr7:103398011 [GRCh38] Chr7:103038458 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.467T>C (p.Ile156Thr)	single nucleotide variant	not provided [RCV003024064]	Chr7:103411523 [GRCh38] Chr7:103051970 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1678-12T>G	single nucleotide variant	not provided [RCV003055864]	Chr7:103378565 [GRCh38] Chr7:103019012 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.2161G>A (p.Glu721Lys)	single nucleotide variant	not provided [RCV003025921]	Chr7:103374473 [GRCh38] Chr7:103014920 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1349G>A (p.Gly450Glu)	single nucleotide variant	not provided [RCV003040824]	Chr7:103389387 [GRCh38] Chr7:103029834 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1219G>A (p.Gly407Ser)	single nucleotide variant	not provided [RCV002805454]	Chr7:103391636 [GRCh38] Chr7:103032083 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.646G>A (p.Ala216Thr)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV004584997]\|SLC26A5-related disorder [RCV004758908]\|not provided [RCV002602875]	Chr7:103410474 [GRCh38] Chr7:103050921 [GRCh37] Chr7:7q22.1	likely pathogenic\|uncertain significance
NM_198999.3(SLC26A5):c.2225C>T (p.Pro742Leu)	single nucleotide variant	Inborn genetic diseases [RCV002959360]	Chr7:103374409 [GRCh38] Chr7:103014856 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.723T>C (p.Phe241=)	single nucleotide variant	not provided [RCV002671347]	Chr7:103410397 [GRCh38] Chr7:103050844 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1218C>T (p.Thr406=)	single nucleotide variant	not provided [RCV003088922]	Chr7:103391637 [GRCh38] Chr7:103032084 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1044C>T (p.Ile348=)	single nucleotide variant	not provided [RCV002988833]	Chr7:103392994 [GRCh38] Chr7:103033441 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1871C>G (p.Thr624Arg)	single nucleotide variant	Inborn genetic diseases [RCV002703001]	Chr7:103377714 [GRCh38] Chr7:103018161 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.27C>G (p.Ile9Met)	single nucleotide variant	not provided [RCV002580184]	Chr7:103421488 [GRCh38] Chr7:103061935 [GRCh37] Chr7:7q22.1	uncertain significance
NM_002803.4(PSMC2):c.302T>C (p.Ile101Thr)	single nucleotide variant	not specified [RCV004130430]	Chr7:103361968 [GRCh38] Chr7:103002415 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.993G>A (p.Pro331=)	single nucleotide variant	not provided [RCV003091469]	Chr7:103393045 [GRCh38] Chr7:103033492 [GRCh37] Chr7:7q22.1	likely benign
NM_002803.4(PSMC2):c.119C>G (p.Thr40Ser)	single nucleotide variant	not specified [RCV004217314]	Chr7:103354878 [GRCh38] Chr7:102995325 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1784C>A (p.Ala595Glu)	single nucleotide variant	Inborn genetic diseases [RCV002723919]	Chr7:103378447 [GRCh38] Chr7:103018894 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.642C>T (p.Thr214=)	single nucleotide variant	not provided [RCV002633203]	Chr7:103410478 [GRCh38] Chr7:103050925 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1322C>T (p.Ser441Leu)	single nucleotide variant	not provided [RCV003072819]	Chr7:103389414 [GRCh38] Chr7:103029861 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2041+19T>A	single nucleotide variant	not provided [RCV002586412]	Chr7:103376789 [GRCh38] Chr7:103017236 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.2110C>T (p.His704Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003287104]	Chr7:103374524 [GRCh38] Chr7:103014971 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1399A>G (p.Ile467Val)	single nucleotide variant	Inborn genetic diseases [RCV003185905]	Chr7:103389337 [GRCh38] Chr7:103029784 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2221A>G (p.Thr741Ala)	single nucleotide variant	Inborn genetic diseases [RCV003210097]	Chr7:103374413 [GRCh38] Chr7:103014860 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.475C>T (p.Pro159Ser)	single nucleotide variant	Inborn genetic diseases [RCV003360037]	Chr7:103411515 [GRCh38] Chr7:103051962 [GRCh37] Chr7:7q22.1	uncertain significance
NM_002803.4(PSMC2):c.1192A>C (p.Arg398=)	single nucleotide variant	not provided [RCV003423723]	Chr7:103367944 [GRCh38] Chr7:103008391 [GRCh37] Chr7:7q22.1	likely benign
NM_206883.3(SLC26A5):c.2042-10423T>C	single nucleotide variant	not provided [RCV003423722]	Chr7:103363349 [GRCh38] Chr7:103003796 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1355T>G (p.Phe452Cys)	single nucleotide variant	Inborn genetic diseases [RCV003364830]	Chr7:103389381 [GRCh38] Chr7:103029828 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1111G>A (p.Gly371Ser)	single nucleotide variant	Inborn genetic diseases [RCV003364121]	Chr7:103392927 [GRCh38] Chr7:103033374 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.887C>T (p.Ala296Val)	single nucleotide variant	Inborn genetic diseases [RCV003350374]	Chr7:103407852 [GRCh38] Chr7:103048299 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2065C>T (p.Arg689Trp)	single nucleotide variant	not provided [RCV003481854]	Chr7:103374569 [GRCh38] Chr7:103015016 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1986+1G>A	single nucleotide variant	not provided [RCV003570652]	Chr7:103377598 [GRCh38] Chr7:103018045 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_198999.3(SLC26A5):c.108_109del (p.Asp36fs)	deletion	not provided [RCV003569959]	Chr7:103421406..103421407 [GRCh38] Chr7:103061853..103061854 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.706C>T (p.Arg236Trp)	single nucleotide variant	not provided [RCV003481856]	Chr7:103410414 [GRCh38] Chr7:103050861 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.876A>G (p.Leu292=)	single nucleotide variant	not provided [RCV003828014]	Chr7:103407863 [GRCh38] Chr7:103048310 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.571-18G>T	single nucleotide variant	not provided [RCV003877265]	Chr7:103410567 [GRCh38] Chr7:103051014 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.960A>C (p.Thr320=)	single nucleotide variant	not provided [RCV003835250]	Chr7:103397943 [GRCh38] Chr7:103038390 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.152+20G>T	single nucleotide variant	not provided [RCV003852180]	Chr7:103421343 [GRCh38] Chr7:103061790 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1812T>C (p.Ala604=)	single nucleotide variant	not provided [RCV003580146]	Chr7:103377773 [GRCh38] Chr7:103018220 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1408-13G>A	single nucleotide variant	not provided [RCV003840159]	Chr7:103389127 [GRCh38] Chr7:103029574 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.818T>A (p.Leu273Ter)	single nucleotide variant	not provided [RCV003673062]	Chr7:103407921 [GRCh38] Chr7:103048368 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.891C>T (p.Val297=)	single nucleotide variant	not provided [RCV003734329]	Chr7:103398012 [GRCh38] Chr7:103038459 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.2122del (p.Asp708fs)	deletion	not provided [RCV003670796]	Chr7:103374512 [GRCh38] Chr7:103014959 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.51T>G (p.Tyr17Ter)	single nucleotide variant	not provided [RCV003824315]	Chr7:103421464 [GRCh38] Chr7:103061911 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.1110C>T (p.Asp370=)	single nucleotide variant	not provided [RCV003859466]	Chr7:103392928 [GRCh38] Chr7:103033375 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.672C>T (p.Ser224=)	single nucleotide variant	not provided [RCV003727174]	Chr7:103410448 [GRCh38] Chr7:103050895 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1119+15T>G	single nucleotide variant	not provided [RCV003869420]	Chr7:103392904 [GRCh38] Chr7:103033351 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1515-1G>A	single nucleotide variant	not provided [RCV003704107]	Chr7:103380550 [GRCh38] Chr7:103020997 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_198999.3(SLC26A5):c.726C>T (p.Ser242=)	single nucleotide variant	not provided [RCV003857412]	Chr7:103410394 [GRCh38] Chr7:103050841 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1312-1G>A	single nucleotide variant	not provided [RCV003679628]	Chr7:103389425 [GRCh38] Chr7:103029872 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_198999.3(SLC26A5):c.2010C>T (p.Val670=)	single nucleotide variant	not provided [RCV003720341]	Chr7:103376839 [GRCh38] Chr7:103017286 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1915G>A (p.Val639Ile)	single nucleotide variant	not provided [RCV003819718]	Chr7:103377670 [GRCh38] Chr7:103018117 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1311+20G>A	single nucleotide variant	not provided [RCV003823508]	Chr7:103390409 [GRCh38] Chr7:103030856 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.329dup (p.Phe111fs)	duplication	not provided [RCV003856987]	Chr7:103413075..103413076 [GRCh38] Chr7:103053522..103053523 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.1120-11A>G	single nucleotide variant	not provided [RCV003841187]	Chr7:103391746 [GRCh38] Chr7:103032193 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1214G>A (p.Gly405Glu)	single nucleotide variant	SLC26A5-related disorder [RCV003951468]	Chr7:103391641 [GRCh38] Chr7:103032088 [GRCh37] Chr7:7q22.1	likely benign
NM_002803.4(PSMC2):c.187A>G (p.Thr63Ala)	single nucleotide variant	not specified [RCV004513311]	Chr7:103354946 [GRCh38] Chr7:102995393 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.571-4del	deletion	SLC26A5-related disorder [RCV003954734]	Chr7:103410553 [GRCh38] Chr7:103051000 [GRCh37] Chr7:7q22.1	likely benign
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	copy number loss	See cases [RCV000050924]	Chr7:101807149..112414850 [GRCh38] Chr7:101450429..112054905 [GRCh37] Chr7:101237149..111842141 [NCBI36] Chr7:7q22.1-31.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=)	single nucleotide variant	not provided [RCV000885616]\|not specified [RCV000155847]	Chr7:103380492 [GRCh38] Chr7:103020939 [GRCh37] Chr7:7q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_198999.3(SLC26A5):c.1699A>G (p.Ile567Val)	single nucleotide variant	not provided [RCV001564494]	Chr7:103378532 [GRCh38] Chr7:103018979 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_002803.4(PSMC2):c.325C>T (p.Pro109Ser)	single nucleotide variant	not provided [RCV003314088]	Chr7:103361991 [GRCh38] Chr7:103002438 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.735+6dup	duplication	not provided [RCV001546024]	Chr7:103410378..103410379 [GRCh38] Chr7:103050825..103050826 [GRCh37] Chr7:7q22.1	uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_198999.3(SLC26A5):c.2041+120_2041+122del	microsatellite	not provided [RCV001710964]	Chr7:103376686..103376688 [GRCh38] Chr7:103017133..103017135 [GRCh37] Chr7:7q22.1	benign
NM_198999.3(SLC26A5):c.1312-49C>T	single nucleotide variant	not provided [RCV001637768]	Chr7:103389473 [GRCh38] Chr7:103029920 [GRCh37] Chr7:7q22.1	benign
NC_000007.13:g.(?_102937907)_(107643330_?)dup	duplication	not provided [RCV003113939]	Chr7:102937907..107643330 [GRCh37] Chr7:7q22.1-31.1	uncertain significance
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
NM_198999.3(SLC26A5):c.2146del (p.Arg716fs)	deletion	Autosomal recessive nonsyndromic hearing loss 61 [RCV003234842]	Chr7:103374488 [GRCh38] Chr7:103014935 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_198999.3(SLC26A5):c.2125G>C (p.Ala709Pro)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV004821429]	Chr7:103374509 [GRCh38] Chr7:103014956 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1904dup (p.Gly636fs)	duplication	not provided [RCV003024230]	Chr7:103377680..103377681 [GRCh38] Chr7:103018127..103018128 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV003136757]	Chr7:103377649 [GRCh38] Chr7:103018096 [GRCh37] Chr7:7q22.1	uncertain significance
GRCh37/hg19 7q22.1(chr7:102668567-103242665)x3	copy number gain	not provided [RCV003484695]	Chr7:102668567..103242665 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1768G>A (p.Ala590Thr)	single nucleotide variant	Inborn genetic diseases [RCV004456679]	Chr7:103378463 [GRCh38] Chr7:103018910 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.104A>G (p.Lys35Arg)	single nucleotide variant	Inborn genetic diseases [RCV004456677]	Chr7:103421411 [GRCh38] Chr7:103061858 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1963G>A (p.Val655Ile)	single nucleotide variant	Inborn genetic diseases [RCV004456681]	Chr7:103377622 [GRCh38] Chr7:103018069 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1539G>T (p.Lys513Asn)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV004585172]\|Inborn genetic diseases [RCV004674026]	Chr7:103380525 [GRCh38] Chr7:103020972 [GRCh37] Chr7:7q22.1	uncertain significance
NC_000007.13:g.(?_102937907)_(108155935_?)del	deletion	not provided [RCV004583601]	Chr7:102937907..108155935 [GRCh37] Chr7:7q22.1-31.1	pathogenic
NM_198999.3(SLC26A5):c.1040C>A (p.Ala347Asp)	single nucleotide variant	SLC26A5-related disorder [RCV004732356]	Chr7:103392998 [GRCh38] Chr7:103033445 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1865A>G (p.Lys622Arg)	single nucleotide variant	Inborn genetic diseases [RCV004971303]	Chr7:103377720 [GRCh38] Chr7:103018167 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1334T>C (p.Ile445Thr)	single nucleotide variant	Inborn genetic diseases [RCV004971304]	Chr7:103389402 [GRCh38] Chr7:103029849 [GRCh37] Chr7:7q22.1	uncertain significance
NM_002803.4(PSMC2):c.704C>T (p.Ala235Val)	single nucleotide variant	not specified [RCV004846330]	Chr7:103364255 [GRCh38] Chr7:103004702 [GRCh37] Chr7:7q22.1	uncertain significance
NM_002803.4(PSMC2):c.1124G>A (p.Arg375Gln)	single nucleotide variant	not specified [RCV004846328]	Chr7:103367789 [GRCh38] Chr7:103008236 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1057G>A (p.Val353Met)	single nucleotide variant	Inborn genetic diseases [RCV004971305]	Chr7:103392981 [GRCh38] Chr7:103033428 [GRCh37] Chr7:7q22.1	uncertain significance
NM_002803.4(PSMC2):c.1078C>T (p.Arg360Cys)	single nucleotide variant	not specified [RCV004846327]	Chr7:103367743 [GRCh38] Chr7:103008190 [GRCh37] Chr7:7q22.1	uncertain significance
NM_002803.4(PSMC2):c.1041T>A (p.Asp347Glu)	single nucleotide variant	not specified [RCV004846329]	Chr7:103367609 [GRCh38] Chr7:103008056 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2116A>G (p.Ile706Val)	single nucleotide variant	Inborn genetic diseases [RCV004971307]	Chr7:103374518 [GRCh38] Chr7:103014965 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.632G>A (p.Arg211His)	single nucleotide variant	Inborn genetic diseases [RCV004971309]	Chr7:103410488 [GRCh38] Chr7:103050935 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1785+10C>G	single nucleotide variant	not provided [RCV005087808]	Chr7:103378436 [GRCh38] Chr7:103018883 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1514+11A>G	single nucleotide variant	not provided [RCV005173796]	Chr7:103388997 [GRCh38] Chr7:103029444 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1496_1497del (p.Val499fs)	microsatellite	not provided [RCV005070470]	Chr7:103389025..103389026 [GRCh38] Chr7:103029472..103029473 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.1119+13A>G	single nucleotide variant	not provided [RCV005169246]	Chr7:103392906 [GRCh38] Chr7:103033353 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1234-14del	deletion	not provided [RCV005070476]	Chr7:103390520 [GRCh38] Chr7:103030967 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.195del (p.Pro66_Ile67insTer)	deletion	not provided [RCV005116744]	Chr7:103420835 [GRCh38] Chr7:103061282 [GRCh37] Chr7:7q22.1	pathogenic
NM_198999.3(SLC26A5):c.1467C>T (p.Ile489=)	single nucleotide variant	not provided [RCV005141441]	Chr7:103389055 [GRCh38] Chr7:103029502 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1785+9T>C	single nucleotide variant	not provided [RCV005119750]	Chr7:103378437 [GRCh38] Chr7:103018884 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1209G>A (p.Gln403=)	single nucleotide variant	not provided [RCV005162242]	Chr7:103391646 [GRCh38] Chr7:103032093 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.705_706delinsCT (p.Lys235_Arg236delinsAsnTrp)	indel	not provided [RCV005133237]	Chr7:103410414..103410415 [GRCh38] Chr7:103050861..103050862 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.736-16A>G	single nucleotide variant	not provided [RCV005149458]	Chr7:103408019 [GRCh38] Chr7:103048466 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.1230A>G (p.Thr410=)	single nucleotide variant	not provided [RCV005075135]	Chr7:103391625 [GRCh38] Chr7:103032072 [GRCh37] Chr7:7q22.1	likely benign
NM_198999.3(SLC26A5):c.173G>A (p.Arg58Lys)	single nucleotide variant	Inborn genetic diseases [RCV004971308]	Chr7:103420857 [GRCh38] Chr7:103061304 [GRCh37] Chr7:7q22.1	uncertain significance
NM_002803.4(PSMC2):c.1031G>A (p.Ser344Asn)	single nucleotide variant	not specified [RCV004513310]	Chr7:103367599 [GRCh38] Chr7:103008046 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1789G>A (p.Ala597Thr)	single nucleotide variant	Inborn genetic diseases [RCV004456680]	Chr7:103377796 [GRCh38] Chr7:103018243 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.2168A>G (p.Glu723Gly)	single nucleotide variant	Inborn genetic diseases [RCV004456682]\|not provided [RCV005104702]	Chr7:103374466 [GRCh38] Chr7:103014913 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_198999.3(SLC26A5):c.517G>A (p.Ala173Thr)	single nucleotide variant	Inborn genetic diseases [RCV004456683]	Chr7:103411473 [GRCh38] Chr7:103051920 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.930A>C (p.Lys310Asn)	single nucleotide variant	Inborn genetic diseases [RCV004456684]	Chr7:103397973 [GRCh38] Chr7:103038420 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1871C>T (p.Thr624Ile)	single nucleotide variant	Inborn genetic diseases [RCV004672393]	Chr7:103377714 [GRCh38] Chr7:103018161 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.538A>G (p.Met180Val)	single nucleotide variant	Inborn genetic diseases [RCV004672392]	Chr7:103411452 [GRCh38] Chr7:103051899 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.824G>A (p.Gly275Asp)	single nucleotide variant	Inborn genetic diseases [RCV004672389]	Chr7:103407915 [GRCh38] Chr7:103048362 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.895A>T (p.Met299Leu)	single nucleotide variant	Inborn genetic diseases [RCV004672390]	Chr7:103398008 [GRCh38] Chr7:103038455 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.809G>A (p.Gly270Asp)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 61 [RCV004821238]	Chr7:103407930 [GRCh38] Chr7:103048377 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.575G>A (p.Cys192Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004971302]	Chr7:103410545 [GRCh38] Chr7:103050992 [GRCh37] Chr7:7q22.1	uncertain significance
NM_198999.3(SLC26A5):c.1799A>G (p.Asp600Gly)	single nucleotide variant	Inborn genetic diseases [RCV004971306]	Chr7:103377786 [GRCh38] Chr7:103018233 [GRCh37] Chr7:7q22.1	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	3418
Count of miRNA genes:	790
Interacting mature miRNAs:	915
Transcripts:	ENST00000306312, ENST00000339444, ENST00000354356, ENST00000356767, ENST00000393723, ENST00000393727, ENST00000393729, ENST00000393730, ENST00000393735, ENST00000423416, ENST00000432958, ENST00000445809, ENST00000454864, ENST00000456463, ENST00000487407
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597257865	GWAS1353939_H	normal QTL GWAS1353939 (human)		1e-11	normal		7	103421378	103421379	Human
597275131	GWAS1371205_H	age-related hearing impairment QTL GWAS1371205 (human)		7e-12	age-related hearing impairment		7	103411631	103411632	Human
597221165	GWAS1317239_H	age-related hearing impairment QTL GWAS1317239 (human)		2e-13	age-related hearing impairment		7	103421378	103421379	Human
597216573	GWAS1312647_H	chronotype measurement QTL GWAS1312647 (human)		7e-22	sleep behavior trait (VT:0001501)		7	103424359	103424360	Human
597331772	GWAS1427846_H	hearing loss QTL GWAS1427846 (human)		3e-11	hearing loss		7	103421378	103421379	Human
597115087	GWAS1211161_H	neuroticism measurement, wellbeing measurement, depressive symptom measurement QTL GWAS1211161 (human)		0.0000002	wellness/fitness trait (VT:1000152)		7	103430746	103430747	Human
597470080	GWAS1566154_H	chronotype measurement QTL GWAS1566154 (human)		8e-09	sleep behavior trait (VT:0001501)		7	103366166	103366167	Human
597275127	GWAS1371201_H	age-related hearing impairment QTL GWAS1371201 (human)		3e-14	age-related hearing impairment		7	103421378	103421379	Human
597092361	GWAS1188435_H	circadian rhythm QTL GWAS1188435 (human)		0.000002	circadian rhythm		7	103426329	103426330	Human

SGC32632

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	103,008,459 - 103,008,591	UniSTS	GRCh37
Build 36	7	102,795,695 - 102,795,827	RGD	NCBI36
Celera	7	97,815,676 - 97,815,808	RGD
Cytogenetic Map	7	q22.1-q22.3	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
HuRef	7	97,370,959 - 97,371,091	UniSTS
CRA_TCAGchr7v2	7	102,368,825 - 102,368,957	UniSTS
GeneMap99-GB4 RH Map	7	522.18	UniSTS
Whitehead-RH Map	7	491.1	UniSTS

B296YE5

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	103,033,947 - 103,034,187	UniSTS	GRCh37
Build 36	7	102,821,183 - 102,821,423	RGD	NCBI36
Celera	7	97,840,272 - 97,840,510	RGD
Cytogenetic Map	7	q22.1	UniSTS
HuRef	7	97,394,391 - 97,394,629	UniSTS
CRA_TCAGchr7v2	7	102,394,313 - 102,394,553	UniSTS
Whitehead-RH Map	7	491.0	UniSTS
Whitehead-YAC Contig Map	7		UniSTS

RH11504

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	103,008,370 - 103,008,515	UniSTS	GRCh37
Build 36	7	102,795,606 - 102,795,751	RGD	NCBI36
Celera	7	97,815,587 - 97,815,732	RGD
Cytogenetic Map	7	q22.1-q22.3	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
HuRef	7	97,370,870 - 97,371,015	UniSTS
CRA_TCAGchr7v2	7	102,368,736 - 102,368,881	UniSTS
GeneMap99-GB4 RH Map	7	522.11	UniSTS

RH69239

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	103,008,953 - 103,009,097	UniSTS	GRCh37
Build 36	7	102,796,189 - 102,796,333	RGD	NCBI36
Celera	7	97,816,170 - 97,816,314	RGD
Cytogenetic Map	7	q22.1-q22.3	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
HuRef	7	97,371,453 - 97,371,597	UniSTS
CRA_TCAGchr7v2	7	102,369,319 - 102,369,463	UniSTS
GeneMap99-GB4 RH Map	7	521.67	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2343	2734	2142	4794	1661	2223	2	573	1539	412	2211	6516	5931	13	3601	754	1663	1544	169


RefSeq Transcripts	NG_023055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001167962	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_198999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_206883	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_206884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_206885	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_120441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_120442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_120443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_135801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_135802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011516170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054358167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001744725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001744726	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001744727	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002956437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007060034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC004668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC005064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC093701	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF523354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126898	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY256823	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY256824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY256825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY289133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY289134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC100832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC100833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC100834	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC100835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA197655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000306312 ⟹ ENSP00000304783

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,207 - 103,446,207 (-)	Ensembl

Ensembl Acc Id:

ENST00000339444 ⟹ ENSP00000342396

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,352,730 - 103,446,151 (-)	Ensembl

Ensembl Acc Id:

ENST00000354356 ⟹ ENSP00000346325

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,216 - 103,446,177 (-)	Ensembl

Ensembl Acc Id:

ENST00000356767 ⟹ ENSP00000349210

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,352,730 - 103,446,151 (-)	Ensembl

Ensembl Acc Id:

ENST00000393723 ⟹ ENSP00000377324

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,378 - 103,421,522 (-)	Ensembl

Ensembl Acc Id:

ENST00000393727 ⟹ ENSP00000377328

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,378 - 103,421,522 (-)	Ensembl

Ensembl Acc Id:

ENST00000393729 ⟹ ENSP00000377330

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,266 - 103,443,194 (-)	Ensembl

Ensembl Acc Id:

ENST00000393730 ⟹ ENSP00000377331

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,207 - 103,443,196 (-)	Ensembl

Ensembl Acc Id:

ENST00000393735 ⟹ ENSP00000377336

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,352,730 - 103,446,151 (-)	Ensembl

Ensembl Acc Id:

ENST00000423416 ⟹ ENSP00000389018

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,261 - 103,443,196 (-)	Ensembl

Ensembl Acc Id:

ENST00000432958 ⟹ ENSP00000389733

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,212 - 103,446,177 (-)	Ensembl

Ensembl Acc Id:

ENST00000445809 ⟹ ENSP00000396833

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,207 - 103,443,196 (-)	Ensembl

Ensembl Acc Id:

ENST00000454864 ⟹ ENSP00000416502

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,207 - 103,443,196 (-)	Ensembl

Ensembl Acc Id:

ENST00000456463 ⟹ ENSP00000395568

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,374,266 - 103,443,194 (-)	Ensembl

Ensembl Acc Id:

ENST00000487407

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	103,388,523 - 103,446,177 (-)	Ensembl

RefSeq Acc Id:

NM_001167962 ⟹ NP_001161434

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,374,207 - 103,446,207 (-)	NCBI
GRCh37	7	102,993,177 - 103,086,624 (-)	ENTREZGENE
HuRef	7	97,355,533 - 97,447,053 (-)	ENTREZGENE
CHM1_1	7	102,947,966 - 103,019,937 (-)	NCBI
T2T-CHM13v2.0	7	104,688,657 - 104,760,648 (-)	NCBI
CRA_TCAGchr7v2	7	102,353,543 - 102,447,443 (-)	ENTREZGENE

Sequence:

show sequence

ACTGCCCGCGGCGCCTCCTCCTAGAGCCGCACCTGGAGGCAGCGCGCGCGTCGAAGAGGCAGCGGCTGTGGAGCGCGGCGGGGCGGCTCCGCCCAGGGCAGCCCGGGCTGGGCCAAGGAGCGAGCTCT
CCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGGGGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGC
TTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAG
ACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCAT
ACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCA
TTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTGCTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCC
AGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATGTCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGG
CCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTG
TATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAGATTTAAAGAGAAATTGCC
GGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAGGGCTGCTACCTCCAGCCA
ATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGATTTTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGCTACCAGGTTGACGGCAAT
CAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTTCATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAAGACACAGCTTGCAGGTTG
TTTGGCCTCATTAATGATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCCCAGACCATCTGGCTTACCACTTTTGTGTCCTCCTTGTTCCTGGGATTGGACTATGGTTTGATCA
CTGCTGTGATCATTGCTCTGCTGACTGTGATTTACAGAACACAGAGTCCAAGCTACAAAGTCCTTGGAAAGCTTCCTGAAACTGATGTGTATATTGATATAGACGCATATGAGGAGGTGAAAGAAATT
CCTGGAATAAAAATATTTCAAATAAATGCACCAATTTACTATGCAAATAGCGACTTGTATAGCAATGCATTAAAACGAAAGACTGGAGTGAACCCAGCAGTCATCATGGGAGCAAGGAGAAAGGCCAT
GCGGAAGTACGCTAAGGAAGTCGGAAATGCAAATATGGCCAACGCAACTGTTGTCAAAGCAGATGCAGAAGTAGATGGAGAGGATGCTACCAAGCCTGAAGAAGAGGATGGTGAAGTAAAATATCCCC
CAATAGTGATCAAAAGCACATTTCCTGAGGAAATGCAAAGATTTATGCCCCCAGGGGATAACGTCCACACTGTCATTTTGGATTTCACTCAAGTCAATTTTATTGATTCTGTTGGAGTGAAAACTCTG
GCAGGGATTGTAAAAGAATATGGAGACGTCGGTATATATGTATACTTAGCAGGATGCAGTGCACAAGTTGTGAATGACCTCACTCGGAATAGATTTTTTGAAAATCCTGCCCTATGGGAGCTGCTGTT
CCACAGCATTCATGATGCAGTTTTAGGCAGCCAACTTAGAGAGGCACTTGCTGAACAGGAAGCCTCGGCTCCCCCTTCCCAGGAGGACTTGGAGCCCAATGCCACTCCTGCCACTCCTGAGGCATAGA
TGAGGACCTCACCCTAGGATGGGGTTATAAGCCTCTCATGAAGTTCATAATTTACACGTTTTAAATACTAGACGCTAGATTTTTTTTTCTAAGGGTGAATACTAGTAGTCCAGGCTTGATTTGGAGGG
TGAATGACGCCTAGCAAGATGTATTGTACTTGTGTTTTTTTAATTGAATACTTCAAAGATAAA

hide sequence

RefSeq Acc Id:

NM_001321787 ⟹ NP_001308716

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,352,730 - 103,446,207 (-)	NCBI
CHM1_1	7	102,926,169 - 103,019,937 (-)	NCBI
T2T-CHM13v2.0	7	104,667,171 - 104,760,648 (-)	NCBI

Sequence:

show sequence

ACTGCCCGCGGCGCCTCCTCCTAGAGCCGCACCTGGAGGCAGCGCGCGCGTCGAAGAGGCAGCG
GCTGTGGAGCGCGGCGGGGCGGCTCCGCCCAGGGCAGCCCGGGCTGGGCCAAGGAGCGAGCTCTCCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGG
GGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGCTTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCC
TTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGT
ACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCT
TCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTG
CTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATG
TCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCAC
CTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTGTATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGC
TGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAGATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAAC
TTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAGGGCTGCTACCTCCAGCCAATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGATT
TTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGCTACCAGGTTGACGGCAATCAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTT
CATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAAGACACAGCTTGCAGGTTGTTTGGCCTCATTAATGATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCC
CAGACCATCTGGCTTACCACTTTTGTGTCCTCCTTGTTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCTGACTGTGATTTACAGAACACAGAGTCCAAGCTACAAAGTCCT
TGGAAAGCTTCCTGAAACTGATGTGTATATTGATATAGACGCATATGAGGAGGTGAAAGAAATTCCTGGAATAAAAATATTTCAAATAAATGCACCAATTTACTATGCAAATAGCGACTTGTATAGCA
ATGCATTAAAACGAAAGACTGGAGTGAACCCAGCAGTCATCATGGGAGCAAGGAGAAAGGCCATGCGGAAGTACGCTAAGGAAGTCGGAAATGCAAATATGGCCAACGCAACTGTTGTCAAAGCAGAT
GCAGAAGTAGATGGAGAGGATGCTACCAAGCCTGAAGAAGAGGATGGTGAAGTAAAATATCCCCCAATAGTGATCAAAAGCACATTTCCTGAGGAAATGCAAAGATTTATGCCCCCAGGGGATAACGT
CCACACTGTCATTTTGGATTTCACTCAAGTCAATTTTATTGATTCTGTTGGAGTGAAAACTCTGGCAGGGATTGTAAAAGAATATGGAGACGTCGGTATATATGTATACTTAGCAGGATGCAGTGCTT
TCATACAGAGATGACCAGAAGATGGAGACCGTAGGGGAAATGCCGTGTAATCCAAGCAGTTCAGGCTTTGGGGCCAGGTGGACAGGGTTTGAATGCCAGCTCTGGAATCTGTTAGTGGGGTGACCTCA
GCCAAGTCACTTAACACTTCTGAACTTTGTTTTCTCTTTTGTGAAATAAAGAAAAAATGAATCTAC

hide sequence

RefSeq Acc Id:

NM_198999 ⟹ NP_945350

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,374,207 - 103,446,207 (-)	NCBI
GRCh37	7	102,993,177 - 103,086,624 (-)	ENTREZGENE
Build 36	7	102,801,890 - 102,873,834 (-)	NCBI Archive
HuRef	7	97,355,533 - 97,447,053 (-)	ENTREZGENE
CHM1_1	7	102,947,966 - 103,019,937 (-)	NCBI
T2T-CHM13v2.0	7	104,688,657 - 104,760,648 (-)	NCBI
CRA_TCAGchr7v2	7	102,353,543 - 102,447,443 (-)	ENTREZGENE

Sequence:

show sequence

ACTGCCCGCGGCGCCTCCTCCTAGAGCCGCACCTGGAGGCAGCGCGCGCGTCGAAGAGGCAGCGGCTGTGGAGCGCGGCGGGGCGGCTCCGCCCAGGGCAGCCCGGGCTGGGCCAAGGAGCGAGCTCT
CCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGGGGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGC
TTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAG
ACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCAT
ACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCA
TTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTGCTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCC
AGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATGTCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGG
CCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTG
TATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAGATTTAAAGAGAAATTGCC
GGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAGGGCTGCTACCTCCAGCCA
ATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGATTTTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGCTACCAGGTTGACGGCAAT
CAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTTCATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAAGACACAGCTTGCAGGTTG
TTTGGCCTCATTAATGATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCCCAGGCTGTGCTGTCGGCCATTGTGATTGTCAACCTGAAGGGAATGTTTATGCAGTTCTCAGATC
TCCCCTTTTTCTGGAGAACCAGCAAAATAGAGCTGACCATCTGGCTTACCACTTTTGTGTCCTCCTTGTTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCTGACTGTGATT
TACAGAACACAGAGTCCAAGCTACAAAGTCCTTGGAAAGCTTCCTGAAACTGATGTGTATATTGATATAGACGCATATGAGGAGGTGAAAGAAATTCCTGGAATAAAAATATTTCAAATAAATGCACC
AATTTACTATGCAAATAGCGACTTGTATAGCAATGCATTAAAACGAAAGACTGGAGTGAACCCAGCAGTCATCATGGGAGCAAGGAGAAAGGCCATGCGGAAGTACGCTAAGGAAGTCGGAAATGCAA
ATATGGCCAACGCAACTGTTGTCAAAGCAGATGCAGAAGTAGATGGAGAGGATGCTACCAAGCCTGAAGAAGAGGATGGTGAAGTAAAATATCCCCCAATAGTGATCAAAAGCACATTTCCTGAGGAA
ATGCAAAGATTTATGCCCCCAGGGGATAACGTCCACACTGTCATTTTGGATTTCACTCAAGTCAATTTTATTGATTCTGTTGGAGTGAAAACTCTGGCAGGGATTGTAAAAGAATATGGAGACGTCGG
TATATATGTATACTTAGCAGGATGCAGTGCACAAGTTGTGAATGACCTCACTCGGAATAGATTTTTTGAAAATCCTGCCCTATGGGAGCTGCTGTTCCACAGCATTCATGATGCAGTTTTAGGCAGCC
AACTTAGAGAGGCACTTGCTGAACAGGAAGCCTCGGCTCCCCCTTCCCAGGAGGACTTGGAGCCCAATGCCACTCCTGCCACTCCTGAGGCATAGATGAGGACCTCACCCTAGGATGGGGTTATAAGC
CTCTCATGAAGTTCATAATTTACACGTTTTAAATACTAGACGCTAGATTTTTTTTTCTAAGGGTGAATACTAGTAGTCCAGGCTTGATTTGGAGGGTGAATGACGCCTAGCAAGATGTATTGTACTTG
TGTTTTTTTAATTGAATACTTCAAAGATAAA

hide sequence

RefSeq Acc Id:

NM_206883 ⟹ NP_996766

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,352,730 - 103,446,207 (-)	NCBI
GRCh37	7	102,993,177 - 103,086,624 (-)	ENTREZGENE
Build 36	7	102,780,413 - 102,873,834 (-)	NCBI Archive
HuRef	7	97,355,533 - 97,447,053 (-)	ENTREZGENE
CHM1_1	7	102,926,169 - 103,019,937 (-)	NCBI
T2T-CHM13v2.0	7	104,667,171 - 104,760,648 (-)	NCBI
CRA_TCAGchr7v2	7	102,353,543 - 102,447,443 (-)	ENTREZGENE

Sequence:

show sequence

ACTGCCCGCGGCGCCTCCTCCTAGAGCCGCACCTGGAGGCAGCGCGCGCGTCGAAGAGGCAGCG
GCTGTGGAGCGCGGCGGGGCGGCTCCGCCCAGGGCAGCCCGGGCTGGGCCAAGGAGCGAGCTCTCCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGG
GGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGCTTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCC
TTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGT
ACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCT
TCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTG
CTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATG
TCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCAC
CTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTGTATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGC
TGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAGATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAAC
TTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAGGGCTGCTACCTCCAGCCAATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGATT
TTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGCTACCAGGTTGACGGCAATCAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTT
CATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAAGACACAGCTTGCAGGTTGTTTGGCCTCATTAATGATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCC
CAGGCTGTGCTGTCGGCCATTGTGATTGTCAACCTGAAGGGAATGTTTATGCAGTTCTCAGATCTCCCCTTTTTCTGGAGAACCAGCAAAATAGAGCTGACCATCTGGCTTACCACTTTTGTGTCCTC
CTTGTTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCTGACTGTGATTTACAGAACACAGAGTCCAAGCTACAAAGTCCTTGGAAAGCTTCCTGAAACTGATGTGTATATTG
ATATAGACGCATATGAGGAGGTGAAAGAAATTCCTGGAATAAAAATATTTCAAATAAATGCACCAATTTACTATGCAAATAGCGACTTGTATAGCAATGCATTAAAACGAAAGACTGGAGTGAACCCA
GCAGTCATCATGGGAGCAAGGAGAAAGGCCATGCGGAAGTACGCTAAGGAAGTCGGAAATGCAAATATGGCCAACGCAACTGTTGTCAAAGCAGATGCAGAAGTAGATGGAGAGGATGCTACCAAGCC
TGAAGAAGAGGATGGTGAAGTAAAATATCCCCCAATAGTGATCAAAAGCACATTTCCTGAGGAAATGCAAAGATTTATGCCCCCAGGGGATAACGTCCACACTGTCATTTTGGATTTCACTCAAGTCA
ATTTTATTGATTCTGTTGGAGTGAAAACTCTGGCAGGGATTGTAAAAGAATATGGAGACGTCGGTATATATGTATACTTAGCAGGATGCAGTGCTTTCATACAGAGATGACCAGAAGATGGAGACCGT
AGGGGAAATGCCGTGTAATCCAAGCAGTTCAGGCTTTGGGGCCAGGTGGACAGGGTTTGAATGCCAGCTCTGGAATCTGTTAGTGGGGTGACCTCAGCCAAGTCACTTAACACTTCTGAACTTTGTTT
TCTCTTTTGTGAAATAAAGAAAAAATGAATCTAC

hide sequence

RefSeq Acc Id:

NM_206884 ⟹ NP_996767

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,352,730 - 103,446,207 (-)	NCBI
GRCh37	7	102,993,177 - 103,086,624 (-)	ENTREZGENE
Build 36	7	102,780,413 - 102,873,834 (-)	NCBI Archive
HuRef	7	97,355,533 - 97,447,053 (-)	ENTREZGENE
CHM1_1	7	102,926,169 - 103,019,937 (-)	NCBI
T2T-CHM13v2.0	7	104,667,171 - 104,760,648 (-)	NCBI
CRA_TCAGchr7v2	7	102,353,543 - 102,447,443 (-)	ENTREZGENE

Sequence:

show sequence

ACTGCCCGCGGCGCCTCCTCCTAGAGCCGCACCTGGAGGCAGCGCGCGCGTCGAAGAGGCAGCG
GCTGTGGAGCGCGGCGGGGCGGCTCCGCCCAGGGCAGCCCGGGCTGGGCCAAGGAGCGAGCTCTCCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGG
GGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGCTTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCC
TTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGT
ACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCT
TCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTG
CTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATG
TCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCAC
CTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTGTATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGC
TGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAGATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAAC
TTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAGGGCTGCTACCTCCAGCCAATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGATT
TTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGCTACCAGGTTGACGGCAATCAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTT
CATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAAGACACAGCTTGCAGGTTGTTTGGCCTCATTAATGATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCC
CAGGCTGTGCTGTCGGCCATTGTGATTGTCAACCTGAAGGGAATGTTTATGCAGTTCTCAGATCTCCCCTTTTTCTGGAGAACCAGCAAAATAGAGCTGACCATCTGGCTTACCACTTTTGTGTCCTC
CTTGTTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCTGACTGTGATTTACAGAACACAGAGCTTTCATACAGAGATGACCAGAAGATGGAGACCGTAGGGGAAATGCCGTG
TAATCCAAGCAGTTCAGGCTTTGGGGCCAGGTGGACAGGGTTTGAATGCCAGCTCTGGAATCTGTTAGTGGGGTGACCTCAGCCAAGTCACTTAACACTTCTGAACTTTGTTTTCTCTTTTGTGAAAT
AAAGAAAAAATGAATCTAC

hide sequence

RefSeq Acc Id:

NM_206885 ⟹ NP_996768

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,352,730 - 103,446,207 (-)	NCBI
GRCh37	7	102,993,177 - 103,086,624 (-)	ENTREZGENE
Build 36	7	102,780,413 - 102,873,834 (-)	NCBI Archive
HuRef	7	97,355,533 - 97,447,053 (-)	ENTREZGENE
CHM1_1	7	102,926,169 - 103,019,937 (-)	NCBI
T2T-CHM13v2.0	7	104,667,171 - 104,760,648 (-)	NCBI
CRA_TCAGchr7v2	7	102,353,543 - 102,447,443 (-)	ENTREZGENE

Sequence:

show sequence

ACTGCCCGCGGCGCCTCCTCCTAGAGCCGCACCTGGAGGCAGCGCGCGCGTCGAAGAGGCAGCG
GCTGTGGAGCGCGGCGGGGCGGCTCCGCCCAGGGCAGCCCGGGCTGGGCCAAGGAGCGAGCTCTCCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGG
GGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGCTTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCC
TTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGT
ACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCT
TCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTG
CTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATG
TCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCAC
CTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTGTATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGC
TGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAGATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAAC
TTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAGGCTTTCATACAGAGATGACCAGAAGATGGAGACCGTAGGGGAAATGCCGTGTAATCCAAGCAGTTCAGGCTTTGGGGCCAGG
TGGACAGGGTTTGAATGCCAGCTCTGGAATCTGTTAGTGGGGTGACCTCAGCCAAGTCACTTAACACTTCTGAACTTTGTTTTCTCTTTTGTGAAATAAAGAAAAAATGAATCTAC

hide sequence

RefSeq Acc Id:

NR_120441

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,374,207 - 103,443,211 (-)	NCBI
CHM1_1	7	102,947,966 - 103,016,971 (-)	NCBI
T2T-CHM13v2.0	7	104,688,657 - 104,757,652 (-)	NCBI

Sequence:

show sequence

GGCCAAGGAGCGAGCTCTCCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGGGGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTG
GTGACACTCAGGAAATGCTTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCA
TCCGGTCCTCCAGGAAAGACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAA
CTAAATGGCTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATA
TTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTGCTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACC
AGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATGTCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCT
GTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGT
GGAATCTTTTCCGTGGTGTATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAG
ATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAG
GGCTGCTACCTCCAGCCAATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGATTTTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGC
TACCAGGTTGACGGCAATCAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTTCATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAA
GACACAGCTTGCAGGTTGTTTGGCCTCATTAATGATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCCCAGACCATCTGGCTTACCACTTTTGTGTCCTCCTTGTTCCTGGGAT
TGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCTGACTGTGATTTACAGAACACAGAGGTGAAAGAAATTCCTGGAATAAAAATATTTCAAATAAATGCACCAATTTACTATGCAAATAGCG
ACTTGTATAGCAATGCATTAAAACGAAAGACTGGAGTGAACCCAGCAGTCATCATGGGAGCAAGGAGAAAGGCCATGCGGAAGTACGCTAAGGAAGTCGGAAATGCAAATATGGCCAACGCAACTGTT
GTCAAAGCAGATGCAGAAGTAGATGGAGAGGATGCTACCAAGCCTGAAGAAGAGGATGGTGAAGTAAAATATCCCCCAATAGTGATCAAAAGCACATTTCCTGAGGAAATGCAAAGATTTATGCCCCC
AGGGGATAACGTCCACACTGTCATTTTGGATTTCACTCAAGTCAATTTTATTGATTCTGTTGGAGTGAAAACTCTGGCAGGGATTGTAAAAGAATATGGAGACGTCGGTATATATGTATACTTAGCAG
GATGCAGTGCACAAGTTGTGAATGACCTCACTCGGAATAGATTTTTTGAAAATCCTGCCCTATGGGAGCTGCTGTTCCACAGCATTCATGATGCAGTTTTAGGCAGCCAACTTAGAGAGGCACTTGCT
GAACAGGAAGCCTCGGCTCCCCCTTCCCAGGAGGACTTGGAGCCCAATGCCACTCCTGCCACTCCTGAGGCATAGATGAGGACCTCACCCTAGGATGGGGTTATAAGCCTCTCATGAAGTTCATAATT
TACACGTTTTAAATACTAGACGCTAGATTTTTTTTTCTAAGGGTGAATACTAGTAGTCCAGGCTTGATTTGGAGGGTGAATGACGCCTAGCAAGATGTATTGTACTTGTGTTTTTTTAATTGAATACT
TCAAAGATAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NR_120442

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,374,207 - 103,443,211 (-)	NCBI
CHM1_1	7	102,947,966 - 103,016,971 (-)	NCBI
T2T-CHM13v2.0	7	104,688,657 - 104,757,652 (-)	NCBI

Sequence:

show sequence

GGCCAAGGAGCGAGCTCTCCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTG
CACTGGAGCTCCCAGCGGGGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGCTTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATG
CTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTG
AAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAG
CACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACA
TATCCATAGGTCCTTTTGCTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTG
AGAGTGAAAGTCGCCATGTCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGC
AGCTGTGCATGTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTGTATGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGA
GTTTAATGAGAGATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTGGATGTCGTTGGAA
CACTTCCTCTAGGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTTCATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAAGACACAGC
TTGCAGGTTGTTTGGCCTCATTAATGATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCCCAGGCTGTGCTGTCGGCCATTGTGATTGTCAACCTGAAGGGAATGTTTATGCAG
TTCTCAGATCTCCCCTTTTTCTGGAGAACCAGCAAAATAGAGCTGACCATCTGGCTTACCACTTTTGTGTCCTCCTTGTTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCT
GACTGTGATTTACAGAACACAGAGGTGAAAGAAATTCCTGGAATAAAAATATTTCAAATAAATGCACCAATTTACTATGCAAATAGCGACTTGTATAGCAATGCATTAAAACGAAAGACTGGAGTGAA
CCCAGCAGTCATCATGGGAGCAAGGAGAAAGGCCATGCGGAAGTACGCTAAGGAAGTCGGAAATGCAAATATGGCCAACGCAACTGTTGTCAAAGCAGATGCAGAAGTAGATGGAGAGGATGCTACCA
AGCCTGAAGAAGAGGATGGTGAAGTAAAATATCCCCCAATAGTGATCAAAAGCACATTTCCTGAGGAAATGCAAAGATTTATGCCCCCAGGGGATAACGTCCACACTGTCATTTTGGATTTCACTCAA
GTCAATTTTATTGATTCTGTTGGAGTGAAAACTCTGGCAGGGATTGTAAAAGAATATGGAGACGTCGGTATATATGTATACTTAGCAGGATGCAGTGCACAAGTTGTGAATGACCTCACTCGGAATAG
ATTTTTTGAAAATCCTGCCCTATGGGAGCTGCTGTTCCACAGCATTCATGATGCAGTTTTAGGCAGCCAACTTAGAGAGGCACTTGCTGAACAGGAAGCCTCGGCTCCCCCTTCCCAGGAGGACTTGG
AGCCCAATGCCACTCCTGCCACTCCTGAGGCATAGATGAGGACCTCACCCTAGGATGGGGTTATAAGCCTCTCATGAAGTTCATAATTTACACGTTTTAAATACTAGACGCTAGATTTTTTTTTCTAA
GGGTGAATACTAGTAGTCCAGGCTTGATTTGGAGGGTGAATGACGCCTAGCAAGATGTATTGTACTTGTGTTTTTTTAATTGAATACTTCAAAGATAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NR_120443

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,374,207 - 103,443,211 (-)	NCBI
CHM1_1	7	102,947,966 - 103,016,971 (-)	NCBI
T2T-CHM13v2.0	7	104,688,657 - 104,757,652 (-)	NCBI

Sequence:

show sequence

GGCCAAGGAGCGAGCTCTCCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGGGGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTG
GTGACACTCAGGAAATGCTTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCA
TCCGGTCCTCCAGGAAAGACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAA
CTAAATGGCTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATA
TTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTGCTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACC
AGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATGTCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCT
GTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGT
GGAATCTTTTCCGTGGTGTATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAG
ATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAG
GGCTGCTACCTCCAGCCAATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGATTTTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGC
TACCAGGTTGACGGCAATCAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTTCATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAA
GACACAGACCATCTGGCTTACCACTTTTGTGTCCTCCTTGTTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCTGACTGTGATTTACAGAACACAGAGGTGAAAGAAATTCC
TGGAATAAAAATATTTCAAATAAATGCACCAATTTACTATGCAAATAGCGACTTGTATAGCAATGCATTAAAACGAAAGGATGCAGAAGTAGATGGAGAGGATGCTACCAAGCCTGAAGAAGAGGATG
GTGAAGTAAAATATCCCCCAATAGTGATCAAAAGCACATTTCCTGAGGAAATGCAAAGATTTATGCCCCCAGGGGATAACGTCCACACTGTCATTTTGGATTTCACTCAAGTCAATTTTATTGATTCT
GTTGGAGTGAAAACTCTGGCAGGGATTGTAAAAGAATATGGAGACGTCGGTATATATGTATACTTAGCAGGATGCAGTGCACAAGTTGTGAATGACCTCACTCGGAATAGATTTTTTGAAAATCCTGC
CCTATGGGAGCTGCTGTTCCACAGCATTCATGATGCAGTTTTAGGCAGCCAACTTAGAGAGGCACTTGCTGAACAGGAAGCCTCGGCTCCCCCTTCCCAGGAGGACTTGGAGCCCAATGCCACTCCTG
CCACTCCTGAGGCATAGATGAGGACCTCACCCTAGGATGGGGTTATAAGCCTCTCATGAAGTTCATAATTTACACGTTTTAAATACTAGACGCTAGATTTTTTTTTCTAAGGGTGAATACTAGTAGTC
CAGGCTTGATTTGGAGGGTGAATGACGCCTAGCAAGATGTATTGTACTTGTGTTTTTTTAATTGAATACTTCAAAGATAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NR_135801

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,374,207 - 103,446,207 (-)	NCBI
CHM1_1	7	102,947,966 - 103,019,937 (-)	NCBI
T2T-CHM13v2.0	7	104,688,657 - 104,760,648 (-)	NCBI

Sequence:

show sequence

ACTGCCCGCGGCGCCTCCTCCTAGAGCCGCACCTGGAGGCAGCGCGCGCGTCGAAGAGGCAGCGGCTGTGGAGCGCGGCGGGGCGGCTCCGCCCAGGGCAGCCCGGGCTGGGCCAAGGAGCGAGCTCT
CCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGGGGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGC
TTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAG
ACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCAT
ACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCA
TTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTGCTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCC
AGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATGTCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGG
CCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTG
TATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAGATTTAAAGAGAAATTGCC
GGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAGGGAGCTCATTGCCCTGGG
ACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTTCATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAAGACACAGCTTGCAGGTTGTTTGGCCTCATTAATGATTC
TGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCCCAGACCATCTGGCTTACCACTTTTGTGTCCTCCTTGTTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTG
CTGACTGTGATTTACAGAACACAGAGTCCAAGCTACAAAGTCCTTGGAAAGCTTCCTGAAACTGATGTGTATATTGATATAGACGCATATGAGGAGGTGAAAGAAATTCCTGGAATAAAAATATTTCA
AATAAATGCACCAATTTACTATGCAAATAGCGACTTGTATAGCAATGCATTAAAACGAAAGACTGGAGTGAACCCAGCAGTCATCATGGGAGCAAGGAGAAAGGCCATGCGGAAGTACGCTAAGGAAG
TCGGAAATGCAAATATGGCCAACGCAACTGTTGTCAAAGCAGATGCAGAAGTAGATGGAGAGGATGCTACCAAGCCTGAAGAAGAGGATGGTGAAGTAAAATATCCCCCAATAGTGATCAAAAGCACA
TTTCCTGAGGAAATGCAAAGATTTATGCCCCCAGGGGATAACGTCCACACTGTCATTTTGGATTTCACTCAAGTCAATTTTATTGATTCTGTTGGAGTGAAAACTCTGGCAGGGATTGTAAAAGAATA
TGGAGACGTCGGTATATATGTATACTTAGCAGGATGCAGTGCACAAGTTGTGAATGACCTCACTCGGAATAGATTTTTTGAAAATCCTGCCCTATGGGAGCTGCTGTTCCACAGCATTCATGATGCAG
TTTTAGGCAGCCAACTTAGAGAGGCACTTGCTGAACAGGAAGCCTCGGCTCCCCCTTCCCAGGAGGACTTGGAGCCCAATGCCACTCCTGCCACTCCTGAGGCATAGATGAGGACCTCACCCTAGGAT
GGGGTTATAAGCCTCTCATGAAGTTCATAATTTACACGTTTTAAATACTAGACGCTAGATTTTTTTTTCTAAGGGTGAATACTAGTAGTCCAGGCTTGATTTGGAGGGTGAATGACGCCTAGCAAGAT
GTATTGTACTTGTGTTTTTTTAATTGAATACTTCAAAGATAAA

hide sequence

RefSeq Acc Id:

NR_135802

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,352,730 - 103,446,207 (-)	NCBI
CHM1_1	7	102,926,169 - 103,019,937 (-)	NCBI
T2T-CHM13v2.0	7	104,667,171 - 104,760,648 (-)	NCBI

Sequence:

show sequence

ACTGCCCGCGGCGCCTCCTCCTAGAGCCGCACCTGGAGGCAGCGCGCGCGTCGAAGAGGCAGCG
GCTGTGGAGCGCGGCGGGGCGGCTCCGCCCAGGGCAGCCCGGGCTGGGCCAAGGAGCGAGCTCTCCCTTCTCCTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGG
GGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGCTTGTCTCCGGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCC
TTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACACAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGT
ACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCT
TCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTG
CTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATG
TCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCAC
CTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTGTATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGC
TGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAGATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAAC
TTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAGGGCTGCTACCTCCAGCCAATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGATT
TTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGCTACCAGGTTGACGGCAATCAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTT
CATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAAGACACAGCTTGCAGGTTGTTTGGCCTCATTAATGATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCC
CAGACCATCTGGCTTACCACTTTTGTGTCCTCCTTGTTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCTGACTGTGATTTACAGAACACAGAGGTGAAAGAAATTCCTGGA
ATAAAAATATTTCAAATAAATGCACCAATTTACTATGCAAATAGCGACTTGTATAGCAATGCATTAAAACGAAAGACTGGAGTGAACCCAGCAGTCATCATGGGAGCAAGGAGAAAGGCCATGCGGAA
GTACGCTAAGGAAGTCGGAAATGCAAATATGGCCAACGCAACTGTTGTCAAAGCAGATGCAGAAGTAGATGGAGAGGATGCTACCAAGCCTGAAGAAGAGGATGGTGAAGTAAAATATCCCCCAATAG
TGATCAAAAGCACATTTCCTGAGGAAATGCAAAGATTTATGCCCCCAGGGGATAACGTCCACACTGTCATTTTGGATTTCACTCAAGTCAATTTTATTGATTCTGTTGGAGTGAAAACTCTGGCAGGG
ATTGTAAAAGAATATGGAGACGTCGGTATATATGTATACTTAGCAGGATGCAGTGCTTTCATACAGAGATGACCAGAAGATGGAGACCGTAGGGGAAATGCCGTGTAATCCAAGCAGTTCAGGCTTTG
GGGCCAGGTGGACAGGGTTTGAATGCCAGCTCTGGAATCTGTTAGTGGGGTGACCTCAGCCAAGTCACTTAACACTTCTGAACTTTGTTTTCTCTTTTGTGAAATAAAGAAAAAATGAATCTAC

hide sequence

RefSeq Acc Id:

XM_011516170 ⟹ XP_011514472

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,374,207 - 103,446,052 (-)	NCBI

Sequence:

show sequence

GCGGTCCCTCGGGAGGGGACTGAGCTGAGGCCCGCGGGCCCACCCGAGCAGGGGCCCTCGCTGTCACCGCCTCTGCCCCTGTCTCCCAGGCCCCATGTCGCGCTTTTTCCCTAAACGAACCGGTGACA
GGGCTGACCTGCCCGCACTCTGCTGGTCCCTACGCCGGGAAGGAGAAAGTCTCACGAAGCTCTTTCCTTTGCAACCCCTGTCCCCTTGCCCTCTGCAGCTCCACACAGCATTTTTACTTCCCGTTTGC
CTCCTCGAATCCCTTCGGTGCTAATCCAGCCCTTCGCCGTTTCCAGTTTGGGTCTGGCCTGTTTGTATCCAAATCGAATTACACAAAACCAGGCCCTCAGTTCTGCCTCTGGCCCTCTTTCCGGAGAC
GGGCCCTGCCTCCTCCTGTGCCGGGCTGGGCTTGCCCGGCATTGGCCGCCCGGAGCTCCCAGGGAGCAAGGCTGTGGTCCCGAAACTGGGCCCTCCGCTCAGCGCCGGGCAAGGCTCAAACCCCGGGT
CTCTGACTTATCCGGTCACGAAGGGACTGCTCAGAGCCTAACAGCCCTAAAATTTGGTATTGGCCCCCTCCCGGGAAATCCTTCTCCCTACCAATCAGGCATCGCGGCAGGTGCTCTGCCATCATAGA
GGCTCTGACACGCTGAACTCTCGAAGCTCGCGGCAGTGTTTATTTTTAGGAGAGATTTAGTTGATCGGGAACCAATTGACTTGGTTGACTGCCTCATCTAGTGCGCACCTGGGCCGGGCCCCGCCGGG
AAGGCGTGCTGGACGTTCTCAGTGAGCTCCGAGACCTACAGAAGAAACAGCTGCAAGGATCCGATCAGCTAGCTGTGAAGAAAGCCTCAGATACGCTGTGGGGGCCAAGGAGCGAGCTCTCCCTTCTC
CTGCTCTCAGCCTCAGTGATCAAGGCTTCAGTGAACTGCACTGGAGCTCCCAGCGGGGGATCTTGTCCCCTGTCCCGACTTTTGTGCTGCACATTGGATCTGGTGACACTCAGGAAATGCTTGTCTCC
GGCTGTTAAGGAATAATTTCAGAGTACTATGGATCATGCTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACA
CAAAGGACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCATACAAATTC
AAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCCTTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCC
TGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTGCTGTTATTAGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGAGGAG
TAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATGTCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGGCCATATAT
CTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTGTATAGTAC
AGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAGAGATTTAAAGAGAAATTGCCGGCGCCTA
TTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTGGATGTCGTTGGAACACTTCCTCTAGGGCTGCTACCTCCAGCCAATCCGGAC
ACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGATTTTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGCTACCAGGTTGACGGCAATCAGGAGCT
CATTGCCCTGGGACTGTGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTTCATGCTCCTTGTCTCGAAGCCTTGTTCAGGAGGGAACCGGTGGGAAGACACAGCTTGCAGGTTGTTTGGCCT
CATTAATGATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCCCAGGCTGTGCTGTCGGCCATTGTGATTGTCAACCTGAAGGGAATGTTTATGCAGTTCTCAGATCTCCCCTTT
TTCTGGAGAACCAGCAAAATAGAGCTGACCATCTGGCTTACCACTTTTGTGTCCTCCTTGTTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCTGACTGTGATTTACAGAAC
ACAGAGTCCAAGCTACAAAGTCCTTGGAAAGCTTCCTGAAACTGATGTGTATATTGATATAGACGCATATGAGGAGGTGAAAGAAATTCCTGGAATAAAAATATTTCAAATAAATGCACCAATTTACT
ATGCAAATAGCGACTTGTATAGCAATGCATTAAAACGAAAGACTGGAGTGAACCCAGCAGTCATCATGGGAGCAAGGAGAAAGGCCATGCGGAAGTACGCTAAGGAAGTCGGAAATGCAAATATGGCC
AACGCAACTGTTGTCAAAGCAGATGCAGAAGTAGATGGAGAGGATGCTACCAAGCCTGAAGAAGAGGATGGTGAAGTAAAATATCCCCCAATAGTGATCAAAAGCACATTTCCTGAGGAAATGCAAAG
ATTTATGCCCCCAGGGGATAACGTCCACACTGTCATTTTGGATTTCACTCAAGTCAATTTTATTGATTCTGTTGGAGTGAAAACTCTGGCAGGGATTGTAAAAGAATATGGAGACGTCGGTATATATG
TATACTTAGCAGGATGCAGTGCACAAGTTGTGAATGACCTCACTCGGAATAGATTTTTTGAAAATCCTGCCCTATGGGAGCTGCTGTTCCACAGCATTCATGATGCAGTTTTAGGCAGCCAACTTAGA
GAGGCACTTGCTGAACAGGAAGCCTCGGCTCCCCCTTCCCAGGAGGACTTGGAGCCCAATGCCACTCCTGCCACTCCTGAGGCATAGATGAGGACCTCACCCTAGGATGGGGTTATAAGCCTCTCATG
AAGTTCATAATTTACACGTTTTAAATACTAGACGCTAGATTTTTTTTTCTAAGGGTGAATACTAGTAGTCCAGGCTTGATTTGGAGGGTGAATGACGCCTAGCAAGATGTATTGTACTTGTGTTTTTT
TAATTGAATACTTCAAAGATAAATTGGCCTGTTGCCTGCATTTATTATGGAGAGACATTTCTGCTACATTCTAGTATTATCTTTGTAAGCTAAGCATCGAAAAATTTATTTCAGTCAAGTATTTTACC
CACAAATAAGATATTACATAGTGGTTCTTTGTTTTTGTACTTGTTGATCTACAGATAAGTAGTGGTTCTTTGTTTTTGTACTTGTTGGTCTACAGACTGTCTATAATCAGTTATCTAACAGAAGACAG
GAACTGCAATTTTCTAGAAGTTCTTGTTTTAAAATAACCTTTTATTTATTATAGAAGCAGTATAAATGCATTGAGGACATTTTAAAAAAGTAGACAAGCAAAAATAAGAACATAAAACATATTTCCAC
CACTCAGAGATTACCACTGTTAATATCCTTCCAGATCTTTTTCCATACATATACATTTACATTTTTAACCAAAGTAAGACCACATCTATAGTGTTTTATAACCGATTTTTCTTTAATCAACAATCTCC
ACTTTCTCATTCCAGCACATTTTTGATCTTAGACCATATTTAAATTTCCCCAATTGTCCCCAGATTTGCAGTTGGTTTGTGCAAACTGATATTCATTCTATGACCTTACATTGCAACTGGTCATGTCC
TTTAAAGTCCCTTACATCTATTTTAATCTAGCACAGTTCCTTTTTTATGACATTGACTTGTTAAAGAGACTGGGGCAGCGGTCCTGTAGAATCCTGTCTTGTGAATTTGCCTAGTTTCTTTTTCATGG
TGTTGTTTAACTTGTTTTTATATTGCCTGTACTACCTGCAATCTGGAAGTTATATCTAAAGCCTTTATAGGTTCAAGTTAAAACATTTTGTGCTAGATTATATCATAGATAAGATACATGCTTCATAT
CGCATCACTTCAGAAAACGTAATATCTAGTTGATCTACCATTAACTAATCTATTGATCTAAGTTTGATTACTGGATCAGCATGACAGTCTGATCATCCAGTTAGATTTTTCCCCTTTGTGACTACAGA
CTTATCTGTGTGGTATTCCTTTGGCATTGAATGAATTACCATTTACCCAGGAGTTTTAACATTAGGTGGTAATTCTTGCCTAAATCATTAACTTTGTTAAAGTTTGTGAGTTGGTTGTCTAGTTCTTT
CATTTCTTCTCCGTTTGTTAGTTGGTTATTCTATGTGAACTAAGCTTTCCCTTCTCCACTTGAGCTATTTGGTCATCCTTACCTACAGTTCTACCAGAAGGGCAGGTTGAATGCTTTATTATTTTCAT
TTAATTATCAACTTCAAAGTAAATAACTGGTTTATTAGATGGTGACAAATTAGTGTTTTTTTTTTTTTTTAGATTTCCCTTTTCTGGTGTGATGGTGGTCTTGTGAATTTTTATAGTTTTAATGGGTT
TCAATCCATTATGTTCTTTTCGATGCTCAAATTGTCACAACTGTGGCCAGTATAAGTCCTTAGAAACTTTGCTATTGTTGCTAATCATGAAGTAGCATTAAAGACCATGTTTTTAAGAAAACTAACCC
CCACATATAACTTAAATCTTCCTTAGAAGTTCATAACAGCTATCAGTTCATTATACATCAAACTCAGTGTTCAGCCTAGGAGTAAGCATAATGCTCATCTTACTCATTCCACAGAAACATGGAATGTC
AAAGGTTGGAGGAGGATACCTTTAAACCAATTTGTCACTTTCAGTTGTTTGTAATTACCAGCTCACTACAAATCAAAGCACAGGCATTAGCCAACCTGTCTAAAGCCTCCTCTGCTAAGAGTTCCTGC
TGATAGTGAGTTTGTCTTTTCTTTAATATGCTGTCTTATTGACATCTTGTTATAGCTTTCATGAATAAGATACTGCCAGGAGAAAGTAGTCAGATCCCAGTAGAATTGTTAGCATGGCCTACTTGCAA
CCAAAGCCTGTGGTGTATGTGTTGATGTTAACTCCTATCAGATTTCTCACTCTCTTTACTAATTTAATTCAAAATAAACTCCTCCTTTTAATCAAAACTTTAACTAATTCTAGAGTGAAATTTAGATT
GGCTTAGTTATTTCCTTTGCAATCATCACGAGATCAGATACATCTGCATTCTGATACGGACTGCCTTCTGAAAGAGCATGTAGTTGCAGAACCTCAGCTTACACTAGAAACTTTTGTAAACGAGCTAA
TATCATTTCAGCCATTTAAGTAGAATTTAAGGATTTTAAACTATGTTATAAAATACTTCGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGT
CAGGAATTCAAGACCAGCCTGGCCATCATGGTGAAACCCTGTCTCTATTTAAAAATACAAAAGTGAGCTGGGCATGGTGGCGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG
AATGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCACGCCATTGCACTCCAGCCTGGGTGTCAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAATTATTGCACATTCTTTAGCACCAGCC
TTCCACTTAGCAGATACTATGGTTGATAGATTGACAGTAGTGTACAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCAGTACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGAT
CATCCTGGCTAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA
GGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAGTGTATAAAAAAAGGTATTTGTCTTATACATTTGTATT
TAACTTTTCTGTTGAACTTTTAAACTGTTTTGAATAGAATTGTTATGTATATTAAAAGCACAAGTCTTAAGGTGGGAAAATATATTTTTGTTTTATCACTTTGCTTAGCATCTGAGAACGAGTGCATT
TCAAAATACATTTCATCCATATGTAAATACGTCAGAATGTTTTACTCAATTATTTCATACAGCAAAAATTTCCTGACTTTTTTGTCTTACAGTCTCGTCTCTGGCTTTCAAGGAAATAATATATAAGC
CCACCTGTTCTTTCTGGGCCTTAATAGCTGCTACTGTATCTTCTATGTTTTTCCACCCTGATTCAAATTCAGGTTCATATTGTCCTATCAAAATGGGCATAATCTACATAATCTAAGCACTAGCCTTA
TTTTATGGCAATATATGGGAAAGCACTGTTTTGAAGAAGGTCCCATAAAGAAAAGTCCTTTGACCTTCTGAAATCTCGTGCAGTATGACAGTGGTTGATCTATGTCTCATGAATCGTTGGAATATGTT
TGAAAACATTTGTGAACCAGGGCCCAGGAAACTCCAATCTATGTCTTAGACACTGACTCTGTATTAGTATATGGCAGCTGATAATGGGATCCCAATTGCCAATCTCATCTGCAGTGGAACCCCAAGAA
ACTGTTAAGGGTATGGATCCTCTTCAAGCCCTGGAATAGCTCATTTTGTAGTTGCAGGAAACATCTAAAACATCCACTCTGTGTGGTTTGATCCTGTGTCCTTACCTGTTTAGCAGAGAAAGACAGTA
CCAGCCTCTGAGTGTACACTTTGAGAAAATGAGTCTGCTCTCTTGCGTGGATGAAGAAAAGAGAGGGTAGCAAACCTAGTGAATCTGTCCTGGGGTGGGTGGGTGTGTTTTTGTGTGTGTGTTGGGGG
GGTGGGGGTGTGCCCTTGTGTGGGGATGAGGGAGGGAAGAGCAGGTGGTGGGGAAGGCTCTTTTATGTCTGCCCCTTTAAAGATAGTAAATCAATTTAAATTCTAAAATGAAACCGAACTTCCTTGGT
GTGAGCCTGTATGCTTTACTGAGTGCAAAAAAATGCTATTGGTCCTTTTTAGTGCACCTTACCTTTCAGGAGTGCCTTTAGGATTCACGATGTTTAGATTCTTACTGTTTTGAATGCTCATAAAAGTT
TGAGAACTATAAAAGTATTACTGAATTCTTCAAACATACAGCTAACCAAAATGCATGCAATGGTTTTGAAACCCCTCCAATCCCAGCAACACAACGGTAAAAGTTAGCACCACACCAGGTAACGTGCC
TGCTTAGTGACTTAGATTTTATCAAGTTTGAGCATCTTAAAACTCCACCTGGCCTTTGAGAAAGCTGTACCAGGCTTTTCATTATACTGGTGTATTGCATTTCACTTTACGTAACAGATAAACCTCAG
AAGCATCATGAAAACGGAGTTTTTTAATACACCTAATCACATTTTTAACACTAAGAAGTTTTTAAACAGGATTCTACGGTATATTTTTCTAAAGTCATAAATCCTTTGTATTCTAACTTATCAGCACC
CTGACACATGTATATATATATATGTGCATCTACACACATGTATATAGACACATCTATTTTAGGTGGAGGAAGTTACTGGTAAATGTCTGTTTCATCTCTTTGAGTACAAACATGCTGACCTAGGCAAT
GTTGATGCTACCTGCATAAATATGCCTTGACAGAAAAACCCAAATTTTTAAAGTAGTTGATTTTACATTTGATGTGTGGCCGATTAGATTTTCCTTATGGACCTAAATTATCACGATAGTCACTCTGT
ATCGTTAGAACAGAGTGTGCTCAACATTATCTAATTCGAGTTGTCTTTAATTGGTATATATGAGCACGTGGCCATGACAAAGTGGAAAGACTTCAGAGTGTGTTCTAAATGTGTACATTTATTTAATC
AAAACATTCAAAAACATACATCTTCAGTCATTTTCTTAAGTATATTTTATTGTAAGCATAACCTGAAAATAGTTTGCTCTATTTAATTCCTCAAGAAAAATTAGGGCAGGGTTAAAAAAGATGAATTT
TTCTGATCAAGTTCATAAAAATGAAAAATCAAGAATGTTGGTTGGATTTTATAAAAGGCTTTAATTTCTTTACTTGAAAACTTTCATAATTTTAAGTATTTCAGTGCAAAGCAGCATTTTCTATGTTG
TCAACTTTTTCTATTGTGAATTAAAAATATATCCAACTCTTATTTTGCAACTTATTTATGAATATCGAACTTCAATAAAAATATTCATTATTGTGCTTTGGTCTTGGCATTGGGGGAAGGGGTAATTG
TGGTAGAAGATAGGATTTGGTGGTGGTTACACAGGAGGTAATTTTAAAGAGATGTTGAGGATTCTAATATAACCTTTATTTTTAAAATACCTCACTGTAGACCAGAAGCCTAACAGAAACTTTACCAA
AATTTTAAAGTAATTTGTAAAATGAAAGTAATCACTTTTCTGTATGAAGCCAATTCTGGACTTTCTAAATTAGATCATATGTACAAATATTTTTTTTTCTTTTTTTACTAGTCTTTCACTTCTGGCTG
AACATTTTTCTTTCTGCTTTATTGCACCACTTTACTGCTCATTAAAATCACTAATTCTTCCTGATTAATTTGAAATCAAATGGCAATGCAAAACATATACATCCAATGTTTCTCCTACTTTAAAAAAG
CTTTGGCCAAAGCTTTTATTATTCAATATGGTGGTGGGAAACTATCATAATGCATGTGGTCATACGCCTAAGTGAGCTACTTTGTTGCGGGACAGAAGCGGATAATAGGAGCATAGGTAATGGAGCCA
ACAAACTTGTACTTGAAAGCC

hide sequence

RefSeq Acc Id:

XM_047420347 ⟹ XP_047276303

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,379,253 - 103,446,207 (-)	NCBI

RefSeq Acc Id:

XM_054358167 ⟹ XP_054214142

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	104,693,703 - 104,760,648 (-)	NCBI

RefSeq Acc Id:

XR_007060034

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,389,341 - 103,446,207 (-)	NCBI

RefSeq Acc Id:

XR_008487614

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	104,703,793 - 104,760,648 (-)	NCBI


Protein RefSeqs	NP_001161434	(Get FASTA)	NCBI Sequence Viewer
	NP_001308716	(Get FASTA)	NCBI Sequence Viewer
	NP_945350	(Get FASTA)	NCBI Sequence Viewer
	NP_996766	(Get FASTA)	NCBI Sequence Viewer
	NP_996767	(Get FASTA)	NCBI Sequence Viewer
	NP_996768	(Get FASTA)	NCBI Sequence Viewer
	XP_011514472	(Get FASTA)	NCBI Sequence Viewer
	XP_047276303	(Get FASTA)	NCBI Sequence Viewer
	XP_054214142	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI00833	(Get FASTA)	NCBI Sequence Viewer
	AAI00834	(Get FASTA)	NCBI Sequence Viewer
	AAI00835	(Get FASTA)	NCBI Sequence Viewer
	AAI00836	(Get FASTA)	NCBI Sequence Viewer
	AAP31417	(Get FASTA)	NCBI Sequence Viewer
	AAP31532	(Get FASTA)	NCBI Sequence Viewer
	AAP31533	(Get FASTA)	NCBI Sequence Viewer
	AAP31534	(Get FASTA)	NCBI Sequence Viewer
	AAP43685	(Get FASTA)	NCBI Sequence Viewer
	AAP43686	(Get FASTA)	NCBI Sequence Viewer
	EAW83334	(Get FASTA)	NCBI Sequence Viewer
	EAW83335	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000304783
	ENSP00000304783.3
	ENSP00000342396
	ENSP00000342396.6
	ENSP00000349210
	ENSP00000349210.4
	ENSP00000377324.1
	ENSP00000377331.1
	ENSP00000377336
	ENSP00000377336.2
	ENSP00000389733
	ENSP00000389733.2
GenBank Protein	P58743	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_996768 ⟸ NM_206885
- Peptide Label:	isoform d
- UniProtKB:	P58743 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGT SRHISIGPFAVISLMIGGVAVRLVPDDIVIPGGVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGIFSVVYSTVAVLQNVKN LNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGTLPLGFHTEMTRRWRP hide sequence

RefSeq Acc Id:	NP_996766 ⟸ NM_206883
- Peptide Label:	isoform b
- UniProtKB:	Q7Z7F4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGT SRHISIGPFAVISLMIGGVAVRLVPDDIVIPGGVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGIFSVVYSTVAVLQNVKN LNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGTLPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSI GSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSYKVLG KLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKTGVNPAVIMGARRKAMRKYAKEVGNANMANATVVKADAEVDGEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVH TVILDFTQVNFIDSVGVKTLAGIVKEYGDVGIYVYLAGCSAFIQR hide sequence

RefSeq Acc Id:	NP_996767 ⟸ NM_206884
- Peptide Label:	isoform c
- UniProtKB:	Q496J3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNIIYMF LPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPGGVNATNGTEARDALRVKVAMSVTLLSGIIQFC LGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGIFSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGT LPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNL KGMFMQFSDLPFFWRTSKIELTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSFHTEMTRRWRP hide sequence

RefSeq Acc Id:	NP_001161434 ⟸ NM_001167962
- Peptide Label:	isoform e
- UniProtKB:	Q7Z7F4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGT SRHISIGPFAVISLMIGGVAVRLVPDDIVIPGGVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGIFSVVYSTVAVLQNVKN LNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGTLPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSI GSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDAYEEVKEIPGIKIFQINAPI YYANSDLYSNALKRKTGVNPAVIMGARRKAMRKYAKEVGNANMANATVVKADAEVDGEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVHTVILDFTQVNFIDSVGVKTLAGIVKEYGDVGI YVYLAGCSAQVVNDLTRNRFFENPALWELLFHSIHDAVLGSQLREALAEQEASAPPSQEDLEPNATPATPEA hide sequence

RefSeq Acc Id:	NP_945350 ⟸ NM_198999
- Peptide Label:	isoform a
- UniProtKB:	Q86UG0 (UniProtKB/Swiss-Prot), Q86UF9 (UniProtKB/Swiss-Prot), Q86UF8 (UniProtKB/Swiss-Prot), Q7Z7F3 (UniProtKB/Swiss-Prot), Q496J2 (UniProtKB/Swiss-Prot), P58743 (UniProtKB/Swiss-Prot), Q7Z7F4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGT SRHISIGPFAVISLMIGGVAVRLVPDDIVIPGGVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGIFSVVYSTVAVLQNVKN LNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGTLPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSI GSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSYKVLG KLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKTGVNPAVIMGARRKAMRKYAKEVGNANMANATVVKADAEVDGEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVH TVILDFTQVNFIDSVGVKTLAGIVKEYGDVGIYVYLAGCSAQVVNDLTRNRFFENPALWELLFHSIHDAVLGSQLREALAEQEASAPPSQEDLEPNATPATPEA hide sequence

Protein Domains

SLC26A/SulP transporter STAS

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P58743-F1-model_v2	AlphaFold	P58743	1-744	view protein structure

RGD ID:

7211571

Promoter ID:

EPDNEW_H11530

Type:

initiation region

Name:

SLC26A5_1

Description:

solute carrier family 26 member 5

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	103,446,167 - 103,446,227	EPDNEW

Database	Acc Id	Source(s)
COSMIC	SLC26A5	COSMIC
Ensembl Genes	ENSG00000170615	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000306312	ENTREZGENE
	ENST00000306312.8	UniProtKB/Swiss-Prot
	ENST00000339444	ENTREZGENE
	ENST00000339444.10	UniProtKB/Swiss-Prot
	ENST00000356767	ENTREZGENE
	ENST00000356767.8	UniProtKB/Swiss-Prot
	ENST00000393723.2	UniProtKB/Swiss-Prot
	ENST00000393730.5	UniProtKB/Swiss-Prot
	ENST00000393735	ENTREZGENE
	ENST00000393735.6	UniProtKB/Swiss-Prot
	ENST00000423416	ENTREZGENE
	ENST00000432958	ENTREZGENE
	ENST00000432958.6	UniProtKB/Swiss-Prot
	ENST00000445809	ENTREZGENE
	ENST00000454864	ENTREZGENE
Gene3D-CATH	3.30.750.24	UniProtKB/Swiss-Prot
GTEx	ENSG00000170615	GTEx
HGNC ID	HGNC:9359	ENTREZGENE
Human Proteome Map	SLC26A5	Human Proteome Map
InterPro	S04_transporter_CS	UniProtKB/Swiss-Prot
	SLC26A/SulP_dom	UniProtKB/Swiss-Prot
	SLC26A/SulP_fam	UniProtKB/Swiss-Prot
	STAS_dom	UniProtKB/Swiss-Prot
	STAS_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:375611	UniProtKB/Swiss-Prot
NCBI Gene	SLC26A5	ENTREZGENE
OMIM	604943	OMIM
PANTHER	PTHR11814	UniProtKB/Swiss-Prot
Pfam	STAS	UniProtKB/Swiss-Prot
	Sulfate_transp	UniProtKB/Swiss-Prot
PharmGKB	PA33731	PharmGKB
PROSITE	SLC26A	UniProtKB/Swiss-Prot
	STAS	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF52091	UniProtKB/Swiss-Prot
UniProt	E9PCM2_HUMAN	UniProtKB/TrEMBL
	F8WD50_HUMAN	UniProtKB/TrEMBL
	F8WDL4_HUMAN	UniProtKB/TrEMBL
	P58743	ENTREZGENE
	Q496J0_HUMAN	UniProtKB/TrEMBL
	Q496J1_HUMAN	UniProtKB/TrEMBL
	Q496J2	ENTREZGENE
	Q496J3	ENTREZGENE, UniProtKB/TrEMBL
	Q7Z7F3	ENTREZGENE
	Q7Z7F4	ENTREZGENE, UniProtKB/TrEMBL
	Q86UF8	ENTREZGENE
	Q86UF9	ENTREZGENE
	Q86UG0	ENTREZGENE
	S26A5_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q496J2	UniProtKB/Swiss-Prot
	Q7Z7F3	UniProtKB/Swiss-Prot
	Q86UF8	UniProtKB/Swiss-Prot
	Q86UF9	UniProtKB/Swiss-Prot
	Q86UG0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-08	SLC26A5	solute carrier family 26 member 5		solute carrier family 26 (anion exchanger), member 5	Symbol and/or name change	5135510	APPROVED
2016-02-25	SLC26A5	solute carrier family 26 (anion exchanger), member 5	PRES	prestin (motor protein)	Data merged from RGD:736364	737654	PROVISIONAL
2013-07-23	SLC26A5	solute carrier family 26 (anion exchanger), member 5		solute carrier family 26, member 5 (prestin)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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