Canonical Allele Identifier: CA2760284091
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291559_6291561del , CM000666.2:g.6291559_6291561del GRCh38
NC_000004.11:g.6293286_6293288del , CM000666.1:g.6293286_6293288del GRCh37
NC_000004.10:g.6344187_6344189del NCBI36
NG_011700.1:g.26710_26712del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+192_631+194del ENSP00000507852.1:n.631+192_631+194del
ENST00000683395.1:c.608+205_608+207del
ENST00000684087.1:c.631+192_631+194del ENSP00000506978.1:n.631+192_631+194del
ENST00000684700.1:c.*118_*120del ENSP00000507806.1:n.*118_*120del
ENST00000506362.2:c.382+192_382+194del ENSP00000424103.2:n.382+192_382+194del
ENST00000673642.1:c.430+192_430+194del ENSP00000501242.1:n.430+192_430+194del
ENST00000673991.1:c.631+192_631+194del ENSP00000501033.1:n.631+192_631+194del
ENST00000226760.5:c.631+192_631+194del MANE Select ENSP00000226760.1:n.631+192_631+194del
ENST00000503569.5:c.631+192_631+194del ENSP00000423337.1:n.631+192_631+194del
ENST00000506362.1:c.228+192_228+194del
ENST00000507765.1:n.816+192_816+194del
NM_001145853.1:c.631+192_631+194del NP_001139325.1:n.631+192_631+194del
NM_006005.3:c.631+192_631+194del MANE Select NP_005996.2:n.631+192_631+194del
XM_017008586.1:c.640+192_640+194del XP_016864075.1:n.640+192_640+194del