Canonical Allele Identifier: CA2573052787

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1334109
• ClinVar RCV Id: RCV001809321
• dbSNP Id: rs2129315801

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107689105del , CM000669.2:g.107689105del	GRCh38
NC_000007.13:g.107329550del , CM000669.1:g.107329550del	GRCh37
NC_000007.12:g.107116786del	NCBI36
NG_008489.1:g.33471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1054del MANE Select	ENSP00000494017.1:p.Ala352HisfsTer16
ENST00000265715.7:c.1054del	ENSP00000265715.3:p.Ala352HisfsTer16
NM_000441.1:c.1054del	NP_000432.1:p.Ala352HisfsTer16
XM_005250425.1:c.1054del	XP_005250482.1:p.Ala352HisfsTer16
XM_006716025.2:c.1054del	XP_006716088.1:p.Ala352HisfsTer16
XM_005250425.2:c.1054del	XP_005250482.1:p.Ala352HisfsTer16
XM_006716025.3:c.1054del	XP_006716088.1:p.Ala352HisfsTer16
XM_017012318.1:c.1054del	XP_016867807.1:p.Ala352HisfsTer16
NM_000441.2:c.1054del MANE Select	NP_000432.1:p.Ala352HisfsTer16