Canonical Allele Identifier: CA2580071773

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1810358
• ClinVar RCV Id: RCV002509845

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301339_6301340insA , CM000666.2:g.6301339_6301340insA	GRCh38
NC_000004.11:g.6303066_6303067insA , CM000666.1:g.6303066_6303067insA	GRCh37
NC_000004.10:g.6353967_6353968insA	NCBI36
NG_011700.1:g.36490_36491insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1580_1581insA	ENSP00000507852.1:p.Phe527LeufsTer28
ENST00000683395.1:c.1521_1522insA
ENST00000684087.1:c.1544_1545insA	ENSP00000506978.1:p.Phe515LeufsTer28
ENST00000506362.2:c.1295_1296insA	ENSP00000424103.2:p.Phe432LeufsTer28
ENST00000673642.1:c.1203_1204insA	ENSP00000501242.1:p.Leu402ThrfsTer7
ENST00000673991.1:c.1580_1581insA	ENSP00000501033.1:p.Phe527LeufsTer28
ENST00000226760.5:c.1544_1545insA MANE Select	ENSP00000226760.1:p.Phe515LeufsTer28
ENST00000503569.5:c.1544_1545insA	ENSP00000423337.1:p.Phe515LeufsTer28
ENST00000507765.1:n.1729_1730insA
NM_001145853.1:c.1544_1545insA	NP_001139325.1:p.Phe515LeufsTer28
NM_006005.3:c.1544_1545insA MANE Select	NP_005996.2:p.Phe515LeufsTer28
XM_017008586.1:c.1553_1554insA	XP_016864075.1:p.Phe518LeufsTer28