Canonical Allele Identifier: CA2760283914
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291472_6291474del , CM000666.2:g.6291472_6291474del GRCh38
NC_000004.11:g.6293199_6293201del , CM000666.1:g.6293199_6293201del GRCh37
NC_000004.10:g.6344100_6344102del NCBI36
NG_011700.1:g.26623_26625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+105_631+107del ENSP00000507852.1:n.631+105_631+107del
ENST00000683395.1:c.608+118_608+120del
ENST00000684087.1:c.631+105_631+107del ENSP00000506978.1:n.631+105_631+107del
ENST00000684700.1:c.*31_*33del ENSP00000507806.1:n.*31_*33del
ENST00000506362.2:c.382+105_382+107del ENSP00000424103.2:n.382+105_382+107del
ENST00000673642.1:c.430+105_430+107del ENSP00000501242.1:n.430+105_430+107del
ENST00000673991.1:c.631+105_631+107del ENSP00000501033.1:n.631+105_631+107del
ENST00000226760.5:c.631+105_631+107del MANE Select ENSP00000226760.1:n.631+105_631+107del
ENST00000503569.5:c.631+105_631+107del ENSP00000423337.1:n.631+105_631+107del
ENST00000506362.1:c.228+105_228+107del
ENST00000507765.1:n.816+105_816+107del
NM_001145853.1:c.631+105_631+107del NP_001139325.1:n.631+105_631+107del
NM_006005.3:c.631+105_631+107del MANE Select NP_005996.2:n.631+105_631+107del
XM_017008586.1:c.640+105_640+107del XP_016864075.1:n.640+105_640+107del