Canonical Allele Identifier: CA2499226745
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1074326
ClinVar RCV Id: RCV001387588
dbSNP Id: rs2147265917

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688349_48688350insGGGCCTTCTCCAGGGCAGGAAT , CM000685.2:g.48688349_48688350insGGGCCTTCTCCAGGGCAGGAAT GRCh38
NC_000023.10:g.48546738_48546739insGGGCCTTCTCCAGGGCAGGAAT , CM000685.1:g.48546738_48546739insGGGCCTTCTCCAGGGCAGGAAT GRCh37
NC_000023.9:g.48431682_48431683insGGGCCTTCTCCAGGGCAGGAAT NCBI36
NG_007877.1:g.9553_9554insGGGCCTTCTCCAGGGCAGGAAT , LRG_125:g.9553_9554insGGGCCTTCTCCAGGGCAGGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.71_72insGGGCCTTCTCCAGGGCAGGAAT
ENST00000483750.6:n.1063_1064insGGGCCTTCTCCAGGGCAGGAAT
ENST00000698625.1:c.827_828insGGGCCTTCTCCAGGGCAGGAAT ENSP00000513844.1:p.Ile276MetfsTer20
ENST00000698626.1:c.827_828insGGGCCTTCTCCAGGGCAGGAAT ENSP00000513845.1:p.Ile276MetfsTer20
ENST00000698635.1:c.827_828insGGGCCTTCTCCAGGGCAGGAAT ENSP00000513850.1:p.Ile276MetfsTer20
ENST00000376701.5:c.827_828insGGGCCTTCTCCAGGGCAGGAAT MANE Select ENSP00000365891.4:p.Ile276MetfsTer20
ENST00000376701.4:c.827_828insGGGCCTTCTCCAGGGCAGGAAT ENSP00000365891.4:p.Ile276MetfsTer20
ENST00000474174.1:n.71_72insGGGCCTTCTCCAGGGCAGGAAT
NM_000377.2:c.827_828insGGGCCTTCTCCAGGGCAGGAAT , LRG_125t1:c.827_828insGGGCCTTCTCCAGGGCAGGAAT NP_000368.1:p.Ile276MetfsTer20
XM_011543977.1:c.827_828insGGGCCTTCTCCAGGGCAGGAAT XP_011542279.1:p.Ile276MetfsTer20
XM_011543977.2:c.827_828insGGGCCTTCTCCAGGGCAGGAAT XP_011542279.1:p.Ile276MetfsTer20
XM_017029786.1:c.827_828insGGGCCTTCTCCAGGGCAGGAAT XP_016885275.1:p.Ile276MetfsTer20
NM_000377.3:c.827_828insGGGCCTTCTCCAGGGCAGGAAT MANE Select NP_000368.1:p.Ile276MetfsTer20