Canonical Allele Identifier: CA185112

Gene: WFS1

Linked Data

• ClinVar Variation Id: 179778
• ClinVar RCV Id: RCV000156576 ; RCV002515028 ; RCV002516340 ; RCV003147365
• dbSNP Id: rs730880368
• ExAC: 4:6304076 G / GCCCAGC
• gnomAD v2: 4-6304076-G-GCCCAGC
• gnomAD v4: 4-6302349-G-GCCCAGC
• MyVariant Identifiers: chr4:g.6304077_6304082dupCCCAGC (hg19) ; chr4:g.6304076_6304077insCCCAGC (hg19) ; chr4:g.6302350_6302355dupCCCAGC (hg38) ; chr4:g.6302349_6302350insCCCAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302350_6302355dup , CM000666.2:g.6302350_6302355dup	GRCh38
NC_000004.11:g.6304077_6304082dup , CM000666.1:g.6304077_6304082dup	GRCh37
NC_000004.10:g.6354978_6354983dup	NCBI36
NG_011700.1:g.37501_37506dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2591_2596dup	ENSP00000507852.1:p.Gln865_Leu866insProGln
ENST00000683395.1:c.2532_2537dup
ENST00000684087.1:c.2555_2560dup	ENSP00000506978.1:p.Gln853_Leu854insProGln
ENST00000506362.2:c.2306_2311dup	ENSP00000424103.2:p.Gln770_Leu771insProGln
ENST00000673991.1:c.2591_2596dup	ENSP00000501033.1:p.Gln865_Leu866insProGln
ENST00000226760.5:c.2555_2560dup MANE Select	ENSP00000226760.1:p.Gln853_Leu854insProGln
ENST00000503569.5:c.2555_2560dup	ENSP00000423337.1:p.Gln853_Leu854insProGln
ENST00000507765.1:n.2740_2745dup
NM_001145853.1:c.2555_2560dup	NP_001139325.1:p.Gln853_Leu854insProGln
NM_006005.3:c.2555_2560dup MANE Select	NP_005996.2:p.Gln853_Leu854insProGln
XM_017008586.1:c.2564_2569dup	XP_016864075.1:p.Gln856_Leu857insProGln