Canonical Allele Identifier: CA2760283970
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291498_6291500del , CM000666.2:g.6291498_6291500del GRCh38
NC_000004.11:g.6293225_6293227del , CM000666.1:g.6293225_6293227del GRCh37
NC_000004.10:g.6344126_6344128del NCBI36
NG_011700.1:g.26649_26651del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+131_631+133del ENSP00000507852.1:n.631+131_631+133del
ENST00000683395.1:c.608+144_608+146del
ENST00000684087.1:c.631+131_631+133del ENSP00000506978.1:n.631+131_631+133del
ENST00000684700.1:c.*57_*59del ENSP00000507806.1:n.*57_*59del
ENST00000506362.2:c.382+131_382+133del ENSP00000424103.2:n.382+131_382+133del
ENST00000673642.1:c.430+131_430+133del ENSP00000501242.1:n.430+131_430+133del
ENST00000673991.1:c.631+131_631+133del ENSP00000501033.1:n.631+131_631+133del
ENST00000226760.5:c.631+131_631+133del MANE Select ENSP00000226760.1:n.631+131_631+133del
ENST00000503569.5:c.631+131_631+133del ENSP00000423337.1:n.631+131_631+133del
ENST00000506362.1:c.228+131_228+133del
ENST00000507765.1:n.816+131_816+133del
NM_001145853.1:c.631+131_631+133del NP_001139325.1:n.631+131_631+133del
NM_006005.3:c.631+131_631+133del MANE Select NP_005996.2:n.631+131_631+133del
XM_017008586.1:c.640+131_640+133del XP_016864075.1:n.640+131_640+133del