Canonical Allele Identifier: CA2695233767
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688775dup , CM000685.2:g.48688775dup GRCh38
NC_000023.10:g.48547164dup , CM000685.1:g.48547164dup GRCh37
NC_000023.9:g.48432108dup NCBI36
NG_007877.1:g.9979dup , LRG_125:g.9979dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.291dup
ENST00000698625.1:c.1047dup ENSP00000513844.1:p.Ala350CysfsTer?
ENST00000698626.1:c.1047dup ENSP00000513845.1:p.Ala350CysfsTer?
ENST00000698635.1:c.1047dup ENSP00000513850.1:p.Ala350CysfsTer?
ENST00000376701.5:c.1047dup MANE Select ENSP00000365891.4:p.Ala350CysfsTer?
ENST00000376701.4:c.1047dup ENSP00000365891.4:p.Ala350CysfsTer?
ENST00000474174.1:n.291dup
NM_000377.2:c.1047dup , LRG_125t1:c.1047dup NP_000368.1:p.Ala350CysfsTer?
XM_011543977.1:c.932-41dup XP_011542279.1:n.932-41dup
XM_011543977.2:c.932-41dup XP_011542279.1:n.932-41dup
XM_017029786.1:c.1047dup XP_016885275.1:p.Ala350CysfsTer?
NM_000377.3:c.1047dup MANE Select NP_000368.1:p.Ala350CysfsTer?