Canonical Allele Identifier: CA2695233944
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48683898_48683901del , CM000685.2:g.48683898_48683901del GRCh38
NC_000023.10:g.48542287_48542290del , CM000685.1:g.48542287_48542290del GRCh37
NC_000023.9:g.48427231_48427234del NCBI36
NG_007877.1:g.5102_5105del , LRG_125:g.5102_5105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.78_81del
ENST00000698625.1:c.45_48del ENSP00000513844.1:p.Pro16ArgfsTer28
ENST00000698626.1:c.45_48del ENSP00000513845.1:p.Pro16ArgfsTer28
ENST00000698635.1:c.45_48del ENSP00000513850.1:p.Pro16ArgfsTer28
ENST00000376701.5:c.45_48del MANE Select ENSP00000365891.4:p.Pro16ArgfsTer28
ENST00000376701.4:c.45_48del ENSP00000365891.4:p.Pro16ArgfsTer28
ENST00000450772.5:c.45_48del ENSP00000410537.1:p.Pro16ArgfsTer28
ENST00000465982.5:n.80_83del
ENST00000483750.5:n.71_74del
NM_000377.2:c.45_48del , LRG_125t1:c.45_48del NP_000368.1:p.Pro16ArgfsTer28
XM_011543977.1:c.45_48del XP_011542279.1:p.Pro16ArgfsTer28
XM_011543977.2:c.45_48del XP_011542279.1:p.Pro16ArgfsTer28
XM_017029786.1:c.45_48del XP_016885275.1:p.Pro16ArgfsTer28
NM_000377.3:c.45_48del MANE Select NP_000368.1:p.Pro16ArgfsTer28