Canonical Allele Identifier: CA645619091

Gene: WAS

Linked Data

• gnomAD v4: X-48688712-GC-G
• COSMIC: COSM4172486

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688717del , CM000685.2:g.48688717del	GRCh38
NC_000023.10:g.48547106del , CM000685.1:g.48547106del	GRCh37
NC_000023.9:g.48432050del	NCBI36
NG_007877.1:g.9921del , LRG_125:g.9921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.233del
ENST00000698625.1:c.989del	ENSP00000513844.1:p.Pro330LeufsTer?
ENST00000698626.1:c.989del	ENSP00000513845.1:p.Pro330LeufsTer?
ENST00000698635.1:c.989del	ENSP00000513850.1:p.Pro330LeufsTer?
ENST00000376701.5:c.989del MANE Select	ENSP00000365891.4:p.Pro330LeufsTer?
ENST00000376701.4:c.989del	ENSP00000365891.4:p.Pro330LeufsTer?
ENST00000474174.1:n.233del
NM_000377.2:c.989del , LRG_125t1:c.989del	NP_000368.1:p.Pro330LeufsTer?
XM_011543977.1:c.932-99del	XP_011542279.1:n.932-99del
XM_011543977.2:c.932-99del	XP_011542279.1:n.932-99del
XM_017029786.1:c.989del	XP_016885275.1:p.Pro330LeufsTer?
NM_000377.3:c.989del MANE Select	NP_000368.1:p.Pro330LeufsTer?