Canonical Allele Identifier: CA4432935
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577641
ClinVar RCV Id: RCV003324978
dbSNP Id: rs776068119
ExAC: 7:107341570 TATA / T
gnomAD v2: 7-107341570-TATA-T
gnomAD v3: 7-107701125-TATA-T
gnomAD v4: 7-107701125-TATA-T
MyVariant Identifiers: chr7:g.107341571_107341573del (hg19) chr7:g.107701126_107701128del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701130_107701132del , CM000669.2:g.107701130_107701132del GRCh38
NC_000007.13:g.107341575_107341577del , CM000669.1:g.107341575_107341577del GRCh37
NC_000007.12:g.107128811_107128813del NCBI36
NG_008489.1:g.45496_45498del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1737_1739del MANE Select ENSP00000494017.1:p.Asn579del
ENST00000644846.1:c.448_450del
ENST00000265715.7:c.1737_1739del ENSP00000265715.3:p.Asn579del
ENST00000480841.5:n.586_588del
ENST00000492030.2:n.91-697_91-695del
NM_000441.1:c.1737_1739del NP_000432.1:p.Asn579del
XM_005250425.1:c.1737_1739del XP_005250482.1:p.Asn579del
XM_005250425.2:c.1737_1739del XP_005250482.1:p.Asn579del
XM_017012318.1:c.1659_1661del XP_016867807.1:p.Asn553del
NM_000441.2:c.1737_1739del MANE Select NP_000432.1:p.Asn579del
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