Canonical Allele Identifier: CA136352

Gene: WFS1

Linked Data

• ClinVar Variation Id: 45454
• ClinVar RCV Id: RCV000038658 ; RCV000658992 ; RCV003914948
• dbSNP Id: rs397517197
• ExAC: 4:6303907 G / GGAC
• gnomAD v2: 4-6303907-G-GGAC
• gnomAD v3: 4-6302180-G-GGAC
• gnomAD v4: 4-6302180-G-GGAC
• COSMIC: COSM5978814
• MyVariant Identifiers: chr4:g.6303912_6303914dupACG (hg19) ; chr4:g.6303910_6303911insGAC (hg19) ; chr4:g.6303907_6303908insGAC (hg19) ; chr4:g.6302185_6302187dupACG (hg38) ; chr4:g.6302183_6302184insGAC (hg38) ; chr4:g.6302180_6302181insGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302185_6302187dup , CM000666.2:g.6302185_6302187dup	GRCh38
NC_000004.11:g.6303912_6303914dup , CM000666.1:g.6303912_6303914dup	GRCh37
NC_000004.10:g.6354813_6354815dup	NCBI36
NG_011700.1:g.37336_37338dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2426_2428dup	ENSP00000507852.1:p.Asp809_Val810insAsp
ENST00000683395.1:c.2367_2369dup
ENST00000684087.1:c.2390_2392dup	ENSP00000506978.1:p.Asp797_Val798insAsp
ENST00000506362.2:c.2141_2143dup	ENSP00000424103.2:p.Asp714_Val715insAsp
ENST00000673991.1:c.2426_2428dup	ENSP00000501033.1:p.Asp809_Val810insAsp
ENST00000226760.5:c.2390_2392dup MANE Select	ENSP00000226760.1:p.Asp797_Val798insAsp
ENST00000503569.5:c.2390_2392dup	ENSP00000423337.1:p.Asp797_Val798insAsp
ENST00000507765.1:n.2575_2577dup
NM_001145853.1:c.2390_2392dup	NP_001139325.1:p.Asp797_Val798insAsp
NM_006005.3:c.2390_2392dup MANE Select	NP_005996.2:p.Asp797_Val798insAsp
XM_017008586.1:c.2399_2401dup	XP_016864075.1:p.Asp800_Val801insAsp