Canonical Allele Identifier: CA342900

Gene: WAS

Linked Data

• ClinVar Variation Id: 36913
• ClinVar RCV Id: RCV000030597
• dbSNP Id: rs193922416
• MyVariant Identifiers: chrX:g.48546471dupC (hg19) ; chrX:g.48688082dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688082dup , CM000685.2:g.48688082dup	GRCh38
NC_000023.10:g.48546471dup , CM000685.1:g.48546471dup	GRCh37
NC_000023.9:g.48431415dup	NCBI36
NG_007877.1:g.9286dup , LRG_125:g.9286dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.796dup
ENST00000490627.2:n.200dup
ENST00000698625.1:c.763dup	ENSP00000513844.1:p.Gln255ProfsTer5
ENST00000698626.1:c.763dup	ENSP00000513845.1:p.Gln255ProfsTer5
ENST00000698635.1:c.763dup	ENSP00000513850.1:p.Gln255ProfsTer5
ENST00000376701.5:c.763dup MANE Select	ENSP00000365891.4:p.Gln255ProfsTer5
ENST00000376701.4:c.763dup	ENSP00000365891.4:p.Gln255ProfsTer5
ENST00000465982.5:n.663dup
ENST00000483750.5:n.789dup
ENST00000490627.1:n.183dup
NM_000377.2:c.763dup , LRG_125t1:c.763dup	NP_000368.1:p.Gln255ProfsTer5
XM_011543977.1:c.763dup	XP_011542279.1:p.Gln255ProfsTer5
XM_011543977.2:c.763dup	XP_011542279.1:p.Gln255ProfsTer5
XM_017029786.1:c.763dup	XP_016885275.1:p.Gln255ProfsTer5
NM_000377.3:c.763dup MANE Select	NP_000368.1:p.Gln255ProfsTer5