Canonical Allele Identifier: CA577030046

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1432111504
• gnomAD v2: 7-107336702-AGAG-A
• gnomAD v3: 7-107696257-AGAG-A
• gnomAD v4: 7-107696257-AGAG-A
• MyVariant Identifiers: chr7:g.107336703_107336705del (hg19) ; chr7:g.107696258_107696260del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696258_107696260del , CM000669.2:g.107696258_107696260del	GRCh38
NC_000007.13:g.107336703_107336705del , CM000669.1:g.107336703_107336705del	GRCh37
NC_000007.12:g.107123939_107123941del	NCBI36
NG_008489.1:g.40624_40626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1544+219_1544+221del MANE Select	ENSP00000494017.1:n.1544+219_1544+221del
ENST00000644846.1:c.255+219_255+221del
ENST00000265715.7:c.1544+219_1544+221del	ENSP00000265715.3:n.1544+219_1544+221del
ENST00000477350.5:n.391+219_391+221del
ENST00000480841.5:n.393+219_393+221del
NM_000441.1:c.1544+219_1544+221del	NP_000432.1:n.1544+219_1544+221del
XM_005250425.1:c.1544+219_1544+221del	XP_005250482.1:n.1544+219_1544+221del
XM_005250425.2:c.1544+219_1544+221del	XP_005250482.1:n.1544+219_1544+221del
XM_017012318.1:c.1466+219_1466+221del	XP_016867807.1:n.1466+219_1466+221del
NM_000441.2:c.1544+219_1544+221del MANE Select	NP_000432.1:n.1544+219_1544+221del