Canonical Allele Identifier: CA2580076174

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1724245
• ClinVar RCV Id: RCV002306800

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695985del , CM000669.2:g.107695985del	GRCh38
NC_000007.13:g.107336430del , CM000669.1:g.107336430del	GRCh37
NC_000007.12:g.107123666del	NCBI36
NG_008489.1:g.40351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1490del MANE Select	ENSP00000494017.1:p.Gly497ValfsTer3
ENST00000644846.1:c.201del
ENST00000265715.7:c.1490del	ENSP00000265715.3:p.Gly497ValfsTer3
ENST00000477350.5:n.337del
ENST00000480841.5:n.339del
ENST00000497446.5:n.505del
NM_000441.1:c.1490del	NP_000432.1:p.Gly497ValfsTer3
XM_005250425.1:c.1490del	XP_005250482.1:p.Gly497ValfsTer3
XM_005250425.2:c.1490del	XP_005250482.1:p.Gly497ValfsTer3
XM_017012318.1:c.1412del	XP_016867807.1:p.Gly471ValfsTer3
NM_000441.2:c.1490del MANE Select	NP_000432.1:p.Gly497ValfsTer3