Canonical Allele Identifier: CA2684468717

Gene: SLC26A4

Linked Data

• gnomAD v4: 7-107701116-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701118del , CM000669.2:g.107701118del	GRCh38
NC_000007.13:g.107341563del , CM000669.1:g.107341563del	GRCh37
NC_000007.12:g.107128799del	NCBI36
NG_008489.1:g.45484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1725del MANE Select	ENSP00000494017.1:p.Arg576GlufsTer7
ENST00000644846.1:c.436del
ENST00000265715.7:c.1725del	ENSP00000265715.3:p.Arg576GlufsTer7
ENST00000480841.5:n.574del
ENST00000492030.2:n.91-709del
NM_000441.1:c.1725del	NP_000432.1:p.Arg576GlufsTer7
XM_005250425.1:c.1725del	XP_005250482.1:p.Arg576GlufsTer7
XM_005250425.2:c.1725del	XP_005250482.1:p.Arg576GlufsTer7
XM_017012318.1:c.1647del	XP_016867807.1:p.Arg550GlufsTer7
NM_000441.2:c.1725del MANE Select	NP_000432.1:p.Arg576GlufsTer7