Canonical Allele Identifier: CA2695208253

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107698054_107698064dup , CM000669.2:g.107698054_107698064dup	GRCh38
NC_000007.13:g.107338499_107338509dup , CM000669.1:g.107338499_107338509dup	GRCh37
NC_000007.12:g.107125735_107125745dup	NCBI36
NG_008489.1:g.42420_42430dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1557_1567dup MANE Select	ENSP00000494017.1:p.Ser523MetfsTer27
ENST00000644846.1:c.268_278dup
ENST00000265715.7:c.1557_1567dup	ENSP00000265715.3:p.Ser523MetfsTer27
ENST00000477350.5:n.404_414dup
ENST00000480841.5:n.406_416dup
NM_000441.1:c.1557_1567dup	NP_000432.1:p.Ser523MetfsTer27
XM_005250425.1:c.1557_1567dup	XP_005250482.1:p.Ser523MetfsTer27
XM_005250425.2:c.1557_1567dup	XP_005250482.1:p.Ser523MetfsTer27
XM_017012318.1:c.1479_1489dup	XP_016867807.1:p.Ser497MetfsTer27
NM_000441.2:c.1557_1567dup MANE Select	NP_000432.1:p.Ser523MetfsTer27