Canonical Allele Identifier: CA2695234052
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688346_48688357dup , CM000685.2:g.48688346_48688357dup GRCh38
NC_000023.10:g.48546735_48546746dup , CM000685.1:g.48546735_48546746dup GRCh37
NC_000023.9:g.48431679_48431690dup NCBI36
NG_007877.1:g.9550_9561dup , LRG_125:g.9550_9561dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.68_79dup
ENST00000483750.6:n.1060_1071dup
ENST00000698625.1:c.824_835dup ENSP00000513844.1:p.Glu278_Ala279insGlyIleSerGlu
ENST00000698626.1:c.824_835dup ENSP00000513845.1:p.Glu278_Ala279insGlyIleSerGlu
ENST00000698635.1:c.824_835dup ENSP00000513850.1:p.Glu278_Ala279insGlyIleSerGlu
ENST00000376701.5:c.824_835dup MANE Select ENSP00000365891.4:p.Glu278_Ala279insGlyIleSerGlu
ENST00000376701.4:c.824_835dup ENSP00000365891.4:p.Glu278_Ala279insGlyIleSerGlu
ENST00000474174.1:n.68_79dup
NM_000377.2:c.824_835dup , LRG_125t1:c.824_835dup NP_000368.1:p.Glu278_Ala279insGlyIleSerGlu
XM_011543977.1:c.824_835dup XP_011542279.1:p.Glu278_Ala279insGlyIleSerGlu
XM_011543977.2:c.824_835dup XP_011542279.1:p.Glu278_Ala279insGlyIleSerGlu
XM_017029786.1:c.824_835dup XP_016885275.1:p.Glu278_Ala279insGlyIleSerGlu
NM_000377.3:c.824_835dup MANE Select NP_000368.1:p.Glu278_Ala279insGlyIleSerGlu