Canonical Allele Identifier: CA2695234051
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688342dup , CM000685.2:g.48688342dup GRCh38
NC_000023.10:g.48546731dup , CM000685.1:g.48546731dup GRCh37
NC_000023.9:g.48431675dup NCBI36
NG_007877.1:g.9546dup , LRG_125:g.9546dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.64dup
ENST00000483750.6:n.1056dup
ENST00000698625.1:c.820dup ENSP00000513844.1:p.Ala274GlyfsTer15
ENST00000698626.1:c.820dup ENSP00000513845.1:p.Ala274GlyfsTer15
ENST00000698635.1:c.820dup ENSP00000513850.1:p.Ala274GlyfsTer15
ENST00000376701.5:c.820dup MANE Select ENSP00000365891.4:p.Ala274GlyfsTer15
ENST00000376701.4:c.820dup ENSP00000365891.4:p.Ala274GlyfsTer15
ENST00000474174.1:n.64dup
NM_000377.2:c.820dup , LRG_125t1:c.820dup NP_000368.1:p.Ala274GlyfsTer15
XM_011543977.1:c.820dup XP_011542279.1:p.Ala274GlyfsTer15
XM_011543977.2:c.820dup XP_011542279.1:p.Ala274GlyfsTer15
XM_017029786.1:c.820dup XP_016885275.1:p.Ala274GlyfsTer15
NM_000377.3:c.820dup MANE Select NP_000368.1:p.Ala274GlyfsTer15