Canonical Allele Identifier: CA2695233808
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48689065del , CM000685.2:g.48689065del GRCh38
NC_000023.10:g.48547454del , CM000685.1:g.48547454del GRCh37
NC_000023.9:g.48432398del NCBI36
NG_007877.1:g.10269del , LRG_125:g.10269del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.581del
ENST00000698625.1:c.1337del ENSP00000513844.1:p.Lys446ArgfsTer25
ENST00000698626.1:c.1337del ENSP00000513845.1:p.Lys446ArgfsTer25
ENST00000698635.1:c.1337del ENSP00000513850.1:p.Lys446ArgfsTer25
ENST00000376701.5:c.1337del MANE Select ENSP00000365891.4:p.Lys446ArgfsTer25
ENST00000376701.4:c.1337del ENSP00000365891.4:p.Lys446ArgfsTer25
ENST00000470107.1:n.46del
NM_000377.2:c.1337del , LRG_125t1:c.1337del NP_000368.1:p.Lys446ArgfsTer25
XM_011543977.1:c.1181del XP_011542279.1:p.Lys394ArgfsTer25
XM_011543977.2:c.1181del XP_011542279.1:p.Lys394ArgfsTer25
XM_017029786.1:c.1337del XP_016885275.1:p.Lys446ArgfsTer25
NM_000377.3:c.1337del MANE Select NP_000368.1:p.Lys446ArgfsTer25