Canonical Allele Identifier: CA2760284161
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291639_6291640del , CM000666.2:g.6291639_6291640del GRCh38
NC_000004.11:g.6293366_6293367del , CM000666.1:g.6293366_6293367del GRCh37
NC_000004.10:g.6344267_6344268del NCBI36
NG_011700.1:g.26790_26791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+272_631+273del ENSP00000507852.1:n.631+272_631+273del
ENST00000683395.1:c.609-278_609-277del
ENST00000684087.1:c.631+272_631+273del ENSP00000506978.1:n.631+272_631+273del
ENST00000684700.1:c.*198_*199del ENSP00000507806.1:n.*198_*199del
ENST00000506362.2:c.382+272_382+273del ENSP00000424103.2:n.382+272_382+273del
ENST00000673642.1:c.430+272_430+273del ENSP00000501242.1:n.430+272_430+273del
ENST00000673991.1:c.631+272_631+273del ENSP00000501033.1:n.631+272_631+273del
ENST00000226760.5:c.631+272_631+273del MANE Select ENSP00000226760.1:n.631+272_631+273del
ENST00000503569.5:c.631+272_631+273del ENSP00000423337.1:n.631+272_631+273del
ENST00000506362.1:c.228+272_228+273del
ENST00000507765.1:n.816+272_816+273del
NM_001145853.1:c.631+272_631+273del NP_001139325.1:n.631+272_631+273del
NM_006005.3:c.631+272_631+273del MANE Select NP_005996.2:n.631+272_631+273del
XM_017008586.1:c.640+272_640+273del XP_016864075.1:n.640+272_640+273del