Canonical Allele Identifier: CA2499226744

Gene: WAS

Linked Data

• ClinVar Variation Id: 1073358
• ClinVar RCV Id: RCV001386341
• dbSNP Id: rs2147265693

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688072dup , CM000685.2:g.48688072dup	GRCh38
NC_000023.10:g.48546461dup , CM000685.1:g.48546461dup	GRCh37
NC_000023.9:g.48431405dup	NCBI36
NG_007877.1:g.9276dup , LRG_125:g.9276dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.786dup
ENST00000490627.2:n.190dup
ENST00000698625.1:c.753dup	ENSP00000513844.1:p.Trp252ValfsTer8
ENST00000698626.1:c.753dup	ENSP00000513845.1:p.Trp252ValfsTer8
ENST00000698635.1:c.753dup	ENSP00000513850.1:p.Trp252ValfsTer8
ENST00000376701.5:c.753dup MANE Select	ENSP00000365891.4:p.Trp252ValfsTer8
ENST00000376701.4:c.753dup	ENSP00000365891.4:p.Trp252ValfsTer8
ENST00000465982.5:n.653dup
ENST00000483750.5:n.779dup
ENST00000490627.1:n.173dup
NM_000377.2:c.753dup , LRG_125t1:c.753dup	NP_000368.1:p.Trp252ValfsTer8
XM_011543977.1:c.753dup	XP_011542279.1:p.Trp252ValfsTer8
XM_011543977.2:c.753dup	XP_011542279.1:p.Trp252ValfsTer8
XM_017029786.1:c.753dup	XP_016885275.1:p.Trp252ValfsTer8
NM_000377.3:c.753dup MANE Select	NP_000368.1:p.Trp252ValfsTer8