Canonical Allele Identifier: CA915951087
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 656534
ClinVar RCV Id: RCV000812978
dbSNP Id: rs1602179000

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688380del , CM000685.2:g.48688380del GRCh38
NC_000023.10:g.48546769del , CM000685.1:g.48546769del GRCh37
NC_000023.9:g.48431713del NCBI36
NG_007877.1:g.9584del , LRG_125:g.9584del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.102del
ENST00000483750.6:n.1094del
ENST00000698625.1:c.858del ENSP00000513844.1:p.Ser287LeufsTer21
ENST00000698626.1:c.858del ENSP00000513845.1:p.Ser287LeufsTer21
ENST00000698635.1:c.858del ENSP00000513850.1:p.Ser287LeufsTer21
ENST00000376701.5:c.858del MANE Select ENSP00000365891.4:p.Ser287LeufsTer21
ENST00000376701.4:c.858del ENSP00000365891.4:p.Ser287LeufsTer21
ENST00000474174.1:n.102del
NM_000377.2:c.858del , LRG_125t1:c.858del NP_000368.1:p.Ser287LeufsTer21
XM_011543977.1:c.858del XP_011542279.1:p.Ser287LeufsTer21
XM_011543977.2:c.858del XP_011542279.1:p.Ser287LeufsTer21
XM_017029786.1:c.858del XP_016885275.1:p.Ser287LeufsTer21
NM_000377.3:c.858del MANE Select NP_000368.1:p.Ser287LeufsTer21