Canonical Allele Identifier: CA2573138322

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1500550
• ClinVar RCV Id: RCV002042600
• dbSNP Id: rs2109117184

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291968_6291969delinsAG , CM000666.2:g.6291968_6291969delinsAG	GRCh38
NC_000004.11:g.6293695_6293696delinsAG , CM000666.1:g.6293695_6293696delinsAG	GRCh37
NC_000004.10:g.6344596_6344597delinsAG	NCBI36
NG_011700.1:g.27119_27120delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.683_684delinsAG	ENSP00000507852.1:p.Arg228Gln
ENST00000683395.1:c.660_661delinsAG
ENST00000684087.1:c.683_684delinsAG	ENSP00000506978.1:p.Arg228Gln
ENST00000506362.2:c.434_435delinsAG	ENSP00000424103.2:p.Arg145Gln
ENST00000673642.1:c.482_483delinsAG	ENSP00000501242.1:p.Arg161Gln
ENST00000673991.1:c.683_684delinsAG	ENSP00000501033.1:p.Arg228Gln
ENST00000226760.5:c.683_684delinsAG MANE Select	ENSP00000226760.1:p.Arg228Gln
ENST00000503569.5:c.683_684delinsAG	ENSP00000423337.1:p.Arg228Gln
ENST00000506362.1:c.280_281delinsAG
ENST00000507765.1:n.868_869delinsAG
NM_001145853.1:c.683_684delinsAG	NP_001139325.1:p.Arg228Gln
NM_006005.3:c.683_684delinsAG MANE Select	NP_005996.2:p.Arg228Gln
XM_017008586.1:c.692_693delinsAG	XP_016864075.1:p.Arg231Gln