Canonical Allele Identifier: CA2573158938
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1466589
ClinVar RCV Id: RCV001959541
dbSNP Id: rs2147265717

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688099_48688102del , CM000685.2:g.48688099_48688102del GRCh38
NC_000023.10:g.48546488_48546491del , CM000685.1:g.48546488_48546491del GRCh37
NC_000023.9:g.48431432_48431435del NCBI36
NG_007877.1:g.9303_9306del , LRG_125:g.9303_9306del

Transcript Alleles

HGVS Amino-acid change
ENST00000483750.6:n.813_816del
ENST00000490627.2:n.217_220del
ENST00000698625.1:c.777+3_777+6del ENSP00000513844.1:n.777+3_777+6del
ENST00000698626.1:c.777+3_777+6del ENSP00000513845.1:n.777+3_777+6del
ENST00000698635.1:c.777+3_777+6del ENSP00000513850.1:n.777+3_777+6del
ENST00000376701.5:c.777+3_777+6del MANE Select ENSP00000365891.4:n.777+3_777+6del
ENST00000376701.4:c.777+3_777+6del ENSP00000365891.4:n.777+3_777+6del
ENST00000465982.5:n.680_683del
ENST00000483750.5:n.806_809del
ENST00000490627.1:n.200_203del
NM_000377.2:c.777+3_777+6del , LRG_125t1:c.777+3_777+6del NP_000368.1:n.777+3_777+6del
XM_011543977.1:c.777+3_777+6del XP_011542279.1:n.777+3_777+6del
XM_011543977.2:c.777+3_777+6del XP_011542279.1:n.777+3_777+6del
XM_017029786.1:c.777+3_777+6del XP_016885275.1:n.777+3_777+6del
NM_000377.3:c.777+3_777+6del MANE Select NP_000368.1:n.777+3_777+6del