Canonical Allele Identifier: CA2695234054
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688377dup , CM000685.2:g.48688377dup GRCh38
NC_000023.10:g.48546766dup , CM000685.1:g.48546766dup GRCh37
NC_000023.9:g.48431710dup NCBI36
NG_007877.1:g.9581dup , LRG_125:g.9581dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.99dup
ENST00000483750.6:n.1091dup
ENST00000698625.1:c.855dup ENSP00000513844.1:p.Thr286AspfsTer3
ENST00000698626.1:c.855dup ENSP00000513845.1:p.Thr286AspfsTer3
ENST00000698635.1:c.855dup ENSP00000513850.1:p.Thr286AspfsTer3
ENST00000376701.5:c.855dup MANE Select ENSP00000365891.4:p.Thr286AspfsTer3
ENST00000376701.4:c.855dup ENSP00000365891.4:p.Thr286AspfsTer3
ENST00000474174.1:n.99dup
NM_000377.2:c.855dup , LRG_125t1:c.855dup NP_000368.1:p.Thr286AspfsTer3
XM_011543977.1:c.855dup XP_011542279.1:p.Thr286AspfsTer3
XM_011543977.2:c.855dup XP_011542279.1:p.Thr286AspfsTer3
XM_017029786.1:c.855dup XP_016885275.1:p.Thr286AspfsTer3
NM_000377.3:c.855dup MANE Select NP_000368.1:p.Thr286AspfsTer3