Canonical Allele Identifier: CA2669825844
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6291221-AG-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291223del , CM000666.2:g.6291223del GRCh38
NC_000004.11:g.6292950del , CM000666.1:g.6292950del GRCh37
NC_000004.10:g.6343851del NCBI36
NG_011700.1:g.26374del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.487del ENSP00000507852.1:p.Val163Ter
ENST00000683395.1:c.477del
ENST00000684087.1:c.487del ENSP00000506978.1:p.Val163Ter
ENST00000684700.1:c.487del ENSP00000507806.1:p.Val163Ter
ENST00000506362.2:c.238del ENSP00000424103.2:p.Val80Ter
ENST00000673642.1:c.286del ENSP00000501242.1:p.Val96Ter
ENST00000673991.1:c.487del ENSP00000501033.1:p.Val163Ter
ENST00000674051.1:c.361del ENSP00000501083.1:p.Val121Ter
ENST00000226760.5:c.487del MANE Select ENSP00000226760.1:p.Val163Ter
ENST00000503569.5:c.487del ENSP00000423337.1:p.Val163Ter
ENST00000506362.1:c.84del
ENST00000507765.1:n.672del
NM_001145853.1:c.487del NP_001139325.1:p.Val163Ter
NM_006005.3:c.487del MANE Select NP_005996.2:p.Val163Ter
XM_017008586.1:c.496del XP_016864075.1:p.Val166Ter