Canonical Allele Identifier: CA2669843478

Gene: WFS1

Linked Data

• gnomAD v4: 4-6302400-A-AGCACCGTGCATGGCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302402_6302418dup , CM000666.2:g.6302402_6302418dup	GRCh38
NC_000004.11:g.6304129_6304145dup , CM000666.1:g.6304129_6304145dup	GRCh37
NC_000004.10:g.6355030_6355046dup	NCBI36
NG_011700.1:g.37553_37569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2643_2659dup	ENSP00000507852.1:p.Val887AlafsTer7
ENST00000683395.1:c.2584_2600dup
ENST00000684087.1:c.2607_2623dup	ENSP00000506978.1:p.Val875AlafsTer7
ENST00000506362.2:c.2358_2374dup	ENSP00000424103.2:p.Val792AlafsTer7
ENST00000673991.1:c.2643_2659dup	ENSP00000501033.1:p.Val887AlafsTer7
ENST00000226760.5:c.2607_2623dup MANE Select	ENSP00000226760.1:p.Val875AlafsTer7
ENST00000503569.5:c.2607_2623dup	ENSP00000423337.1:p.Val875AlafsTer7
ENST00000507765.1:n.2792_2808dup
NM_001145853.1:c.2607_2623dup	NP_001139325.1:p.Val875AlafsTer7
NM_006005.3:c.2607_2623dup MANE Select	NP_005996.2:p.Val875AlafsTer7
XM_017008586.1:c.2616_2632dup	XP_016864075.1:p.Val878AlafsTer7