Canonical Allele Identifier: CA162669

Gene: WAS

Linked Data

• ClinVar Variation Id: 135408
• ClinVar RCV Id: RCV000122263 ; RCV001854677
• dbSNP Id: rs797044476
• MyVariant Identifiers: chrX:g.48542281_48542282delinsCC (hg19) ; chrX:g.48683892_48683893delinsCC (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48683892_48683893delinsCC , CM000685.2:g.48683892_48683893delinsCC	GRCh38
NC_000023.10:g.48542281_48542282delinsCC , CM000685.1:g.48542281_48542282delinsCC	GRCh37
NC_000023.9:g.48427225_48427226delinsCC	NCBI36
NG_007877.1:g.5096_5097delinsCC , LRG_125:g.5096_5097delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.72_73delinsCC
ENST00000698625.1:c.39_40delinsCC	ENSP00000513844.1:p.Gly14Arg
ENST00000698626.1:c.39_40delinsCC	ENSP00000513845.1:p.Gly14Arg
ENST00000698635.1:c.39_40delinsCC	ENSP00000513850.1:p.Gly14Arg
ENST00000376701.5:c.39_40delinsCC MANE Select	ENSP00000365891.4:p.Gly14Arg
ENST00000376701.4:c.39_40delinsCC	ENSP00000365891.4:p.Gly14Arg
ENST00000450772.5:c.39_40delinsCC	ENSP00000410537.1:p.Gly14Arg
ENST00000465982.5:n.74_75delinsCC
ENST00000483750.5:n.65_66delinsCC
NM_000377.2:c.39_40delinsCC , LRG_125t1:c.39_40delinsCC	NP_000368.1:p.Gly14Arg
XM_011543977.1:c.39_40delinsCC	XP_011542279.1:p.Gly14Arg
XM_011543977.2:c.39_40delinsCC	XP_011542279.1:p.Gly14Arg
XM_017029786.1:c.39_40delinsCC	XP_016885275.1:p.Gly14Arg
NM_000377.3:c.39_40delinsCC MANE Select	NP_000368.1:p.Gly14Arg