Canonical Allele Identifier: CA2760283945
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291488_6291491del , CM000666.2:g.6291488_6291491del GRCh38
NC_000004.11:g.6293215_6293218del , CM000666.1:g.6293215_6293218del GRCh37
NC_000004.10:g.6344116_6344119del NCBI36
NG_011700.1:g.26639_26642del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+121_631+124del ENSP00000507852.1:n.631+121_631+124del
ENST00000683395.1:c.608+134_608+137del
ENST00000684087.1:c.631+121_631+124del ENSP00000506978.1:n.631+121_631+124del
ENST00000684700.1:c.*47_*50del ENSP00000507806.1:n.*47_*50del
ENST00000506362.2:c.382+121_382+124del ENSP00000424103.2:n.382+121_382+124del
ENST00000673642.1:c.430+121_430+124del ENSP00000501242.1:n.430+121_430+124del
ENST00000673991.1:c.631+121_631+124del ENSP00000501033.1:n.631+121_631+124del
ENST00000226760.5:c.631+121_631+124del MANE Select ENSP00000226760.1:n.631+121_631+124del
ENST00000503569.5:c.631+121_631+124del ENSP00000423337.1:n.631+121_631+124del
ENST00000506362.1:c.228+121_228+124del
ENST00000507765.1:n.816+121_816+124del
NM_001145853.1:c.631+121_631+124del NP_001139325.1:n.631+121_631+124del
NM_006005.3:c.631+121_631+124del MANE Select NP_005996.2:n.631+121_631+124del
XM_017008586.1:c.640+121_640+124del XP_016864075.1:n.640+121_640+124del