Canonical Allele Identifier: CA2684466180

Gene: SLC26A4

Linked Data

• gnomAD v4: 7-107683526-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683527del , CM000669.2:g.107683527del	GRCh38
NC_000007.13:g.107323972del , CM000669.1:g.107323972del	GRCh37
NC_000007.12:g.107111208del	NCBI36
NG_008489.1:g.27893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.991del MANE Select	ENSP00000494017.1:p.Ile331SerfsTer13
ENST00000265715.7:c.991del	ENSP00000265715.3:p.Ile331SerfsTer13
NM_000441.1:c.991del	NP_000432.1:p.Ile331SerfsTer13
XM_005250425.1:c.991del	XP_005250482.1:p.Ile331SerfsTer13
XM_006716025.2:c.991del	XP_006716088.1:p.Ile331SerfsTer13
XM_005250425.2:c.991del	XP_005250482.1:p.Ile331SerfsTer13
XM_006716025.3:c.991del	XP_006716088.1:p.Ile331SerfsTer13
XM_017012318.1:c.991del	XP_016867807.1:p.Ile331SerfsTer13
NM_000441.2:c.991del MANE Select	NP_000432.1:p.Ile331SerfsTer13