Canonical Allele Identifier: CA2760284076
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291556_6291559del , CM000666.2:g.6291556_6291559del GRCh38
NC_000004.11:g.6293283_6293286del , CM000666.1:g.6293283_6293286del GRCh37
NC_000004.10:g.6344184_6344187del NCBI36
NG_011700.1:g.26707_26710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+189_631+192del ENSP00000507852.1:n.631+189_631+192del
ENST00000683395.1:c.608+202_608+205del
ENST00000684087.1:c.631+189_631+192del ENSP00000506978.1:n.631+189_631+192del
ENST00000684700.1:c.*115_*118del ENSP00000507806.1:n.*115_*118del
ENST00000506362.2:c.382+189_382+192del ENSP00000424103.2:n.382+189_382+192del
ENST00000673642.1:c.430+189_430+192del ENSP00000501242.1:n.430+189_430+192del
ENST00000673991.1:c.631+189_631+192del ENSP00000501033.1:n.631+189_631+192del
ENST00000226760.5:c.631+189_631+192del MANE Select ENSP00000226760.1:n.631+189_631+192del
ENST00000503569.5:c.631+189_631+192del ENSP00000423337.1:n.631+189_631+192del
ENST00000506362.1:c.228+189_228+192del
ENST00000507765.1:n.816+189_816+192del
NM_001145853.1:c.631+189_631+192del NP_001139325.1:n.631+189_631+192del
NM_006005.3:c.631+189_631+192del MANE Select NP_005996.2:n.631+189_631+192del
XM_017008586.1:c.640+189_640+192del XP_016864075.1:n.640+189_640+192del