Canonical Allele Identifier: CA2684467831

Gene: SLC26A4

Linked Data

• gnomAD v4: 7-107695939-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695942del , CM000669.2:g.107695942del	GRCh38
NC_000007.13:g.107336387del , CM000669.1:g.107336387del	GRCh37
NC_000007.12:g.107123623del	NCBI36
NG_008489.1:g.40308del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1447del MANE Select	ENSP00000494017.1:p.Val483CysfsTer5
ENST00000644846.1:c.158del
ENST00000265715.7:c.1447del	ENSP00000265715.3:p.Val483CysfsTer5
ENST00000460748.1:n.550del
ENST00000477350.5:n.294del
ENST00000480841.5:n.296del
ENST00000497446.5:n.462del
NM_000441.1:c.1447del	NP_000432.1:p.Val483CysfsTer5
XM_005250425.1:c.1447del	XP_005250482.1:p.Val483CysfsTer5
XM_005250425.2:c.1447del	XP_005250482.1:p.Val483CysfsTer5
XM_017012318.1:c.1369del	XP_016867807.1:p.Val457CysfsTer5
NM_000441.2:c.1447del MANE Select	NP_000432.1:p.Val483CysfsTer5