Canonical Allele Identifier: CA2695198375

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2678919
• ClinVar RCV Id: RCV003472895

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695944del , CM000669.2:g.107695944del	GRCh38
NC_000007.13:g.107336389del , CM000669.1:g.107336389del	GRCh37
NC_000007.12:g.107123625del	NCBI36
NG_008489.1:g.40310del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1449del MANE Select	ENSP00000494017.1:p.Phe484LeufsTer4
ENST00000644846.1:c.160del
ENST00000265715.7:c.1449del	ENSP00000265715.3:p.Phe484LeufsTer4
ENST00000460748.1:n.552del
ENST00000477350.5:n.296del
ENST00000480841.5:n.298del
ENST00000497446.5:n.464del
NM_000441.1:c.1449del	NP_000432.1:p.Phe484LeufsTer4
XM_005250425.1:c.1449del	XP_005250482.1:p.Phe484LeufsTer4
XM_005250425.2:c.1449del	XP_005250482.1:p.Phe484LeufsTer4
XM_017012318.1:c.1371del	XP_016867807.1:p.Phe458LeufsTer4
NM_000441.2:c.1449del MANE Select	NP_000432.1:p.Phe484LeufsTer4