Canonical Allele Identifier: CA2760283959
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291492_6291503del , CM000666.2:g.6291492_6291503del GRCh38
NC_000004.11:g.6293219_6293230del , CM000666.1:g.6293219_6293230del GRCh37
NC_000004.10:g.6344120_6344131del NCBI36
NG_011700.1:g.26643_26654del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+125_631+136del ENSP00000507852.1:n.631+125_631+136del
ENST00000683395.1:c.608+138_608+149del
ENST00000684087.1:c.631+125_631+136del ENSP00000506978.1:n.631+125_631+136del
ENST00000684700.1:c.*51_*62del ENSP00000507806.1:n.*51_*62del
ENST00000506362.2:c.382+125_382+136del ENSP00000424103.2:n.382+125_382+136del
ENST00000673642.1:c.430+125_430+136del ENSP00000501242.1:n.430+125_430+136del
ENST00000673991.1:c.631+125_631+136del ENSP00000501033.1:n.631+125_631+136del
ENST00000226760.5:c.631+125_631+136del MANE Select ENSP00000226760.1:n.631+125_631+136del
ENST00000503569.5:c.631+125_631+136del ENSP00000423337.1:n.631+125_631+136del
ENST00000506362.1:c.228+125_228+136del
ENST00000507765.1:n.816+125_816+136del
NM_001145853.1:c.631+125_631+136del NP_001139325.1:n.631+125_631+136del
NM_006005.3:c.631+125_631+136del MANE Select NP_005996.2:n.631+125_631+136del
XM_017008586.1:c.640+125_640+136del XP_016864075.1:n.640+125_640+136del