Canonical Allele Identifier: CA2695234068
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688719dup , CM000685.2:g.48688719dup GRCh38
NC_000023.10:g.48547108dup , CM000685.1:g.48547108dup GRCh37
NC_000023.9:g.48432052dup NCBI36
NG_007877.1:g.9923dup , LRG_125:g.9923dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.235dup
ENST00000698625.1:c.991dup ENSP00000513844.1:p.Ile331AsnfsTer5
ENST00000698626.1:c.991dup ENSP00000513845.1:p.Ile331AsnfsTer5
ENST00000698635.1:c.991dup ENSP00000513850.1:p.Ile331AsnfsTer5
ENST00000376701.5:c.991dup MANE Select ENSP00000365891.4:p.Ile331AsnfsTer5
ENST00000376701.4:c.991dup ENSP00000365891.4:p.Ile331AsnfsTer5
ENST00000474174.1:n.235dup
NM_000377.2:c.991dup , LRG_125t1:c.991dup NP_000368.1:p.Ile331AsnfsTer5
XM_011543977.1:c.932-97dup XP_011542279.1:n.932-97dup
XM_011543977.2:c.932-97dup XP_011542279.1:n.932-97dup
XM_017029786.1:c.991dup XP_016885275.1:p.Ile331AsnfsTer5
NM_000377.3:c.991dup MANE Select NP_000368.1:p.Ile331AsnfsTer5