Canonical Allele Identifier: CA915867630

Gene: WAS

Linked Data

• dbSNP Id: rs1569493696
• gnomAD v2: X-48542420-CCTCTTCCTCTCCTCCTTCTCT-C
• gnomAD v3: X-48684031-CCTCTTCCTCTCCTCCTTCTCT-C
• gnomAD v4: X-48684031-CCTCTTCCTCTCCTCCTTCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48684039_48684059del , CM000685.2:g.48684039_48684059del	GRCh38
NC_000023.10:g.48542428_48542448del , CM000685.1:g.48542428_48542448del	GRCh37
NC_000023.9:g.48427372_48427392del	NCBI36
NG_007877.1:g.5243_5263del , LRG_125:g.5243_5263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.165+54_165+74del
ENST00000698625.1:c.132+54_132+74del	ENSP00000513844.1:n.132+54_132+74del
ENST00000698626.1:c.132+54_132+74del	ENSP00000513845.1:n.132+54_132+74del
ENST00000698635.1:c.132+54_132+74del	ENSP00000513850.1:n.132+54_132+74del
ENST00000376701.5:c.132+54_132+74del MANE Select	ENSP00000365891.4:n.132+54_132+74del
ENST00000376701.4:c.132+54_132+74del	ENSP00000365891.4:n.132+54_132+74del
ENST00000450772.5:c.132+54_132+74del	ENSP00000410537.1:n.132+54_132+74del
ENST00000465982.5:n.167+54_167+74del
ENST00000483750.5:n.158+54_158+74del
NM_000377.2:c.132+54_132+74del , LRG_125t1:c.132+54_132+74del	NP_000368.1:n.132+54_132+74del
XM_011543977.1:c.132+54_132+74del	XP_011542279.1:n.132+54_132+74del
XM_011543977.2:c.132+54_132+74del	XP_011542279.1:n.132+54_132+74del
XM_017029786.1:c.132+54_132+74del	XP_016885275.1:n.132+54_132+74del
NM_000377.3:c.132+54_132+74del MANE Select	NP_000368.1:n.132+54_132+74del