Canonical Allele Identifier: CA2695233802
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48689014_48689017dup , CM000685.2:g.48689014_48689017dup GRCh38
NC_000023.10:g.48547403_48547406dup , CM000685.1:g.48547403_48547406dup GRCh37
NC_000023.9:g.48432347_48432350dup NCBI36
NG_007877.1:g.10218_10221dup , LRG_125:g.10218_10221dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.530_533dup
ENST00000698625.1:c.1286_1289dup ENSP00000513844.1:p.Arg431GlyfsTer?
ENST00000698626.1:c.1286_1289dup ENSP00000513845.1:p.Arg431GlyfsTer?
ENST00000698635.1:c.1286_1289dup ENSP00000513850.1:p.Arg431GlyfsTer?
ENST00000376701.5:c.1286_1289dup MANE Select ENSP00000365891.4:p.Arg431GlyfsTer?
ENST00000376701.4:c.1286_1289dup ENSP00000365891.4:p.Arg431GlyfsTer?
NM_000377.2:c.1286_1289dup , LRG_125t1:c.1286_1289dup NP_000368.1:p.Arg431GlyfsTer?
XM_011543977.1:c.1130_1133dup XP_011542279.1:p.Arg379GlyfsTer?
XM_011543977.2:c.1130_1133dup XP_011542279.1:p.Arg379GlyfsTer?
XM_017029786.1:c.1286_1289dup XP_016885275.1:p.Arg431GlyfsTer?
NM_000377.3:c.1286_1289dup MANE Select NP_000368.1:p.Arg431GlyfsTer?