Canonical Allele Identifier: CA891862708

Gene: WFS1

Linked Data

• ClinVar Variation Id: 591341
• ClinVar RCV Id: RCV000722519 ; RCV001816793 ; RCV003148856
• dbSNP Id: rs1560422132

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302358_6302360delinsCCG , CM000666.2:g.6302358_6302360delinsCCG	GRCh38
NC_000004.11:g.6304085_6304087delinsCCG , CM000666.1:g.6304085_6304087delinsCCG	GRCh37
NC_000004.10:g.6354986_6354988delinsCCG	NCBI36
NG_011700.1:g.37509_37511delinsCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2599_2601delinsCCG	ENSP00000507852.1:p.Ser867Pro
ENST00000683395.1:c.2540_2542delinsCCG
ENST00000684087.1:c.2563_2565delinsCCG	ENSP00000506978.1:p.Ser855Pro
ENST00000506362.2:c.2314_2316delinsCCG	ENSP00000424103.2:p.Ser772Pro
ENST00000673991.1:c.2599_2601delinsCCG	ENSP00000501033.1:p.Ser867Pro
ENST00000226760.5:c.2563_2565delinsCCG MANE Select	ENSP00000226760.1:p.Ser855Pro
ENST00000503569.5:c.2563_2565delinsCCG	ENSP00000423337.1:p.Ser855Pro
ENST00000507765.1:n.2748_2750delinsCCG
NM_001145853.1:c.2563_2565delinsCCG	NP_001139325.1:p.Ser855Pro
NM_006005.3:c.2563_2565delinsCCG MANE Select	NP_005996.2:p.Ser855Pro
XM_017008586.1:c.2572_2574delinsCCG	XP_016864075.1:p.Ser858Pro