Canonical Allele Identifier: CA2580101067
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 2022929
ClinVar RCV Id: RCV002852854

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688994del , CM000685.2:g.48688994del GRCh38
NC_000023.10:g.48547383del , CM000685.1:g.48547383del GRCh37
NC_000023.9:g.48432327del NCBI36
NG_007877.1:g.10198del , LRG_125:g.10198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.510del
ENST00000698625.1:c.1266del ENSP00000513844.1:p.Gly424AlafsTer21
ENST00000698626.1:c.1266del ENSP00000513845.1:p.Gly424AlafsTer21
ENST00000698635.1:c.1266del ENSP00000513850.1:p.Gly424AlafsTer21
ENST00000376701.5:c.1266del MANE Select ENSP00000365891.4:p.Gly424AlafsTer21
ENST00000376701.4:c.1266del ENSP00000365891.4:p.Gly424AlafsTer21
ENST00000474174.1:n.510del
NM_000377.2:c.1266del , LRG_125t1:c.1266del NP_000368.1:p.Gly424AlafsTer21
XM_011543977.1:c.1110del XP_011542279.1:p.Gly372AlafsTer21
XM_011543977.2:c.1110del XP_011542279.1:p.Gly372AlafsTer21
XM_017029786.1:c.1266del XP_016885275.1:p.Gly424AlafsTer21
NM_000377.3:c.1266del MANE Select NP_000368.1:p.Gly424AlafsTer21