Canonical Allele Identifier: CA2573158943

Gene: WAS

Linked Data

• ClinVar Variation Id: 1683506
• ClinVar RCV Id: RCV002243549
• dbSNP Id: rs2147266901

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688998_48689023del , CM000685.2:g.48688998_48689023del	GRCh38
NC_000023.10:g.48547387_48547412del , CM000685.1:g.48547387_48547412del	GRCh37
NC_000023.9:g.48432331_48432356del	NCBI36
NG_007877.1:g.10202_10227del , LRG_125:g.10202_10227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.514_539del
ENST00000698625.1:c.1270_1295del	ENSP00000513844.1:p.Gly424SerfsTer?
ENST00000698626.1:c.1270_1295del	ENSP00000513845.1:p.Gly424SerfsTer?
ENST00000698635.1:c.1270_1295del	ENSP00000513850.1:p.Gly424SerfsTer?
ENST00000376701.5:c.1270_1295del MANE Select	ENSP00000365891.4:p.Gly424SerfsTer?
ENST00000376701.4:c.1270_1295del	ENSP00000365891.4:p.Gly424SerfsTer?
NM_000377.2:c.1270_1295del , LRG_125t1:c.1270_1295del	NP_000368.1:p.Gly424SerfsTer?
XM_011543977.1:c.1114_1139del	XP_011542279.1:p.Gly372SerfsTer?
XM_011543977.2:c.1114_1139del	XP_011542279.1:p.Gly372SerfsTer?
XM_017029786.1:c.1270_1295del	XP_016885275.1:p.Gly424SerfsTer?
NM_000377.3:c.1270_1295del MANE Select	NP_000368.1:p.Gly424SerfsTer?