Canonical Allele Identifier: CA2499217326

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1212620
• ClinVar RCV Id: RCV001586267
• dbSNP Id: rs2109127534

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302180_6302185delinsCGACGT , CM000666.2:g.6302180_6302185delinsCGACGT	GRCh38
NC_000004.11:g.6303907_6303912delinsCGACGT , CM000666.1:g.6303907_6303912delinsCGACGT	GRCh37
NC_000004.10:g.6354808_6354813delinsCGACGT	NCBI36
NG_011700.1:g.37331_37336delinsCGACGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2421_2426delinsCGACGT	ENSP00000507852.1:p.Glu807_Asp809delinsAs...
ENST00000683395.1:c.2362_2367delinsCGACGT
ENST00000684087.1:c.2385_2390delinsCGACGT	ENSP00000506978.1:p.Glu795_Asp797delinsAs...
ENST00000506362.2:c.2136_2141delinsCGACGT	ENSP00000424103.2:p.Glu712_Asp714delinsAs...
ENST00000673991.1:c.2421_2426delinsCGACGT	ENSP00000501033.1:p.Glu807_Asp809delinsAs...
ENST00000226760.5:c.2385_2390delinsCGACGT MANE Select	ENSP00000226760.1:p.Glu795_Asp797delinsAs...
ENST00000503569.5:c.2385_2390delinsCGACGT	ENSP00000423337.1:p.Glu795_Asp797delinsAs...
ENST00000507765.1:n.2570_2575delinsCGACGT
NM_001145853.1:c.2385_2390delinsCGACGT	NP_001139325.1:p.Glu795_Asp797delinsAspAs...
NM_006005.3:c.2385_2390delinsCGACGT MANE Select	NP_005996.2:p.Glu795_Asp797delinsAspAspVa...
XM_017008586.1:c.2394_2399delinsCGACGT	XP_016864075.1:p.Glu798_Asp800delinsAspAs...