Canonical Allele Identifier: CA325474

Gene: WFS1

Linked Data

• ClinVar Variation Id: 217514
• ClinVar RCV Id: RCV000201518 ; RCV003148676
• dbSNP Id: rs863225126
• MyVariant Identifiers: chr4:g.6303912_6303913insACG (hg19) ; chr4:g.6302185_6302186insACG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302185_6302186insACG , CM000666.2:g.6302185_6302186insACG	GRCh38
NC_000004.11:g.6303912_6303913insACG , CM000666.1:g.6303912_6303913insACG	GRCh37
NC_000004.10:g.6354813_6354814insACG	NCBI36
NG_011700.1:g.37336_37337insACG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2426_2427insACG	ENSP00000507852.1:p.Asp809delinsGluArg
ENST00000683395.1:c.2367_2368insACG
ENST00000684087.1:c.2390_2391insACG	ENSP00000506978.1:p.Asp797delinsGluArg
ENST00000506362.2:c.2141_2142insACG	ENSP00000424103.2:p.Asp714delinsGluArg
ENST00000673991.1:c.2426_2427insACG	ENSP00000501033.1:p.Asp809delinsGluArg
ENST00000226760.5:c.2390_2391insACG MANE Select	ENSP00000226760.1:p.Asp797delinsGluArg
ENST00000503569.5:c.2390_2391insACG	ENSP00000423337.1:p.Asp797delinsGluArg
ENST00000507765.1:n.2575_2576insACG
NM_001145853.1:c.2390_2391insACG	NP_001139325.1:p.Asp797delinsGluArg
NM_006005.3:c.2390_2391insACG MANE Select	NP_005996.2:p.Asp797delinsGluArg
XM_017008586.1:c.2399_2400insACG	XP_016864075.1:p.Asp800delinsGluArg