Canonical Allele Identifier: CA915951086

Gene: WAS

Linked Data

• ClinVar Variation Id: 652576
• ClinVar RCV Id: RCV000808153
• dbSNP Id: rs1602178952

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688325delinsTT , CM000685.2:g.48688325delinsTT	GRCh38
NC_000023.10:g.48546714delinsTT , CM000685.1:g.48546714delinsTT	GRCh37
NC_000023.9:g.48431658delinsTT	NCBI36
NG_007877.1:g.9529delinsTT , LRG_125:g.9529delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.47delinsTT
ENST00000483750.6:n.1039delinsTT
ENST00000698625.1:c.803delinsTT	ENSP00000513844.1:p.Arg268LeufsTer21
ENST00000698626.1:c.803delinsTT	ENSP00000513845.1:p.Arg268LeufsTer21
ENST00000698635.1:c.803delinsTT	ENSP00000513850.1:p.Arg268LeufsTer21
ENST00000376701.5:c.803delinsTT MANE Select	ENSP00000365891.4:p.Arg268LeufsTer21
ENST00000376701.4:c.803delinsTT	ENSP00000365891.4:p.Arg268LeufsTer21
ENST00000474174.1:n.47delinsTT
NM_000377.2:c.803delinsTT , LRG_125t1:c.803delinsTT	NP_000368.1:p.Arg268LeufsTer21
XM_011543977.1:c.803delinsTT	XP_011542279.1:p.Arg268LeufsTer21
XM_011543977.2:c.803delinsTT	XP_011542279.1:p.Arg268LeufsTer21
XM_017029786.1:c.803delinsTT	XP_016885275.1:p.Arg268LeufsTer21
NM_000377.3:c.803delinsTT MANE Select	NP_000368.1:p.Arg268LeufsTer21