Canonical Allele Identifier: CA2573055337

Gene: WAS

Linked Data

• ClinVar Variation Id: 1321313
• ClinVar RCV Id: RCV001779410
• dbSNP Id: rs2147266326

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688718del , CM000685.2:g.48688718del	GRCh38
NC_000023.10:g.48547107del , CM000685.1:g.48547107del	GRCh37
NC_000023.9:g.48432051del	NCBI36
NG_007877.1:g.9922del , LRG_125:g.9922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.234del
ENST00000698625.1:c.990del	ENSP00000513844.1:p.Ile331LeufsTer?
ENST00000698626.1:c.990del	ENSP00000513845.1:p.Ile331LeufsTer?
ENST00000698635.1:c.990del	ENSP00000513850.1:p.Ile331LeufsTer?
ENST00000376701.5:c.990del MANE Select	ENSP00000365891.4:p.Ile331LeufsTer?
ENST00000376701.4:c.990del	ENSP00000365891.4:p.Ile331LeufsTer?
ENST00000474174.1:n.234del
NM_000377.2:c.990del , LRG_125t1:c.990del	NP_000368.1:p.Ile331LeufsTer?
XM_011543977.1:c.932-98del	XP_011542279.1:n.932-98del
XM_011543977.2:c.932-98del	XP_011542279.1:n.932-98del
XM_017029786.1:c.990del	XP_016885275.1:p.Ile331LeufsTer?
NM_000377.3:c.990del MANE Select	NP_000368.1:p.Ile331LeufsTer?