Canonical Allele Identifier: CA2580076144

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1726737
• ClinVar RCV Id: RCV002310421

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663386del , CM000669.2:g.107663386del	GRCh38
NC_000007.13:g.107303831del , CM000669.1:g.107303831del	GRCh37
NC_000007.12:g.107091067del	NCBI36
NG_008489.1:g.7752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.255del MANE Select	ENSP00000494017.1:p.Ser86ValfsTer11
ENST00000265715.7:c.255del	ENSP00000265715.3:p.Ser86ValfsTer11
ENST00000440056.1:c.255del	ENSP00000394760.1:p.Ser86ValfsTer11
NM_000441.1:c.255del	NP_000432.1:p.Ser86ValfsTer11
XM_005250425.1:c.255del	XP_005250482.1:p.Ser86ValfsTer11
XM_006716025.2:c.255del	XP_006716088.1:p.Ser86ValfsTer11
XM_005250425.2:c.255del	XP_005250482.1:p.Ser86ValfsTer11
XM_006716025.3:c.255del	XP_006716088.1:p.Ser86ValfsTer11
XM_017012318.1:c.255del	XP_016867807.1:p.Ser86ValfsTer11
NM_000441.2:c.255del MANE Select	NP_000432.1:p.Ser86ValfsTer11