Canonical Allele Identifier: CA1435768768
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291585_6291586delinsAT , CM000666.2:g.6291585_6291586delinsAT GRCh38
NC_000004.11:g.6293312_6293313delinsAT , CM000666.1:g.6293312_6293313delinsAT GRCh37
NC_000004.10:g.6344213_6344214delinsAT NCBI36
NG_011700.1:g.26736_26737delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+218_631+219delinsAT ENSP00000507852.1:n.631+218_631+219delinsAT
ENST00000683395.1:c.608+231_608+232delinsAT
ENST00000684087.1:c.631+218_631+219delinsAT ENSP00000506978.1:n.631+218_631+219delinsAT
ENST00000684700.1:c.*144_*145delinsAT ENSP00000507806.1:n.*144_*145delinsAT
ENST00000506362.2:c.382+218_382+219delinsAT ENSP00000424103.2:n.382+218_382+219delinsAT
ENST00000673642.1:c.430+218_430+219delinsAT ENSP00000501242.1:n.430+218_430+219delinsAT
ENST00000673991.1:c.631+218_631+219delinsAT ENSP00000501033.1:n.631+218_631+219delinsAT
ENST00000226760.5:c.631+218_631+219delinsAT MANE Select ENSP00000226760.1:n.631+218_631+219delinsAT
ENST00000503569.5:c.631+218_631+219delinsAT ENSP00000423337.1:n.631+218_631+219delinsAT
ENST00000506362.1:c.228+218_228+219delinsAT
ENST00000507765.1:n.816+218_816+219delinsAT
NM_001145853.1:c.631+218_631+219delinsAT NP_001139325.1:n.631+218_631+219delinsAT
NM_006005.3:c.631+218_631+219delinsAT MANE Select NP_005996.2:n.631+218_631+219delinsAT
XM_017008586.1:c.640+218_640+219delinsAT XP_016864075.1:n.640+218_640+219delinsAT