Canonical Allele Identifier: CA2760284069
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291550_6291552del , CM000666.2:g.6291550_6291552del GRCh38
NC_000004.11:g.6293277_6293279del , CM000666.1:g.6293277_6293279del GRCh37
NC_000004.10:g.6344178_6344180del NCBI36
NG_011700.1:g.26701_26703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+183_631+185del ENSP00000507852.1:n.631+183_631+185del
ENST00000683395.1:c.608+196_608+198del
ENST00000684087.1:c.631+183_631+185del ENSP00000506978.1:n.631+183_631+185del
ENST00000684700.1:c.*109_*111del ENSP00000507806.1:n.*109_*111del
ENST00000506362.2:c.382+183_382+185del ENSP00000424103.2:n.382+183_382+185del
ENST00000673642.1:c.430+183_430+185del ENSP00000501242.1:n.430+183_430+185del
ENST00000673991.1:c.631+183_631+185del ENSP00000501033.1:n.631+183_631+185del
ENST00000226760.5:c.631+183_631+185del MANE Select ENSP00000226760.1:n.631+183_631+185del
ENST00000503569.5:c.631+183_631+185del ENSP00000423337.1:n.631+183_631+185del
ENST00000506362.1:c.228+183_228+185del
ENST00000507765.1:n.816+183_816+185del
NM_001145853.1:c.631+183_631+185del NP_001139325.1:n.631+183_631+185del
NM_006005.3:c.631+183_631+185del MANE Select NP_005996.2:n.631+183_631+185del
XM_017008586.1:c.640+183_640+185del XP_016864075.1:n.640+183_640+185del