Canonical Allele Identifier: CA2669843475

Gene: WFS1

Linked Data

• gnomAD v4: 4-6302393-C-CTGGCGCAGCACCGTGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302400_6302416dup , CM000666.2:g.6302400_6302416dup	GRCh38
NC_000004.11:g.6304127_6304143dup , CM000666.1:g.6304127_6304143dup	GRCh37
NC_000004.10:g.6355028_6355044dup	NCBI36
NG_011700.1:g.37551_37567dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2641_2657dup	ENSP00000507852.1:p.Val887AlafsTer7
ENST00000683395.1:c.2582_2598dup
ENST00000684087.1:c.2605_2621dup	ENSP00000506978.1:p.Val875AlafsTer7
ENST00000506362.2:c.2356_2372dup	ENSP00000424103.2:p.Val792AlafsTer7
ENST00000673991.1:c.2641_2657dup	ENSP00000501033.1:p.Val887AlafsTer7
ENST00000226760.5:c.2605_2621dup MANE Select	ENSP00000226760.1:p.Val875AlafsTer7
ENST00000503569.5:c.2605_2621dup	ENSP00000423337.1:p.Val875AlafsTer7
ENST00000507765.1:n.2790_2806dup
NM_001145853.1:c.2605_2621dup	NP_001139325.1:p.Val875AlafsTer7
NM_006005.3:c.2605_2621dup MANE Select	NP_005996.2:p.Val875AlafsTer7
XM_017008586.1:c.2614_2630dup	XP_016864075.1:p.Val878AlafsTer7