Canonical Allele Identifier: CA2695233758
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688734_48688735del , CM000685.2:g.48688734_48688735del GRCh38
NC_000023.10:g.48547123_48547124del , CM000685.1:g.48547123_48547124del GRCh37
NC_000023.9:g.48432067_48432068del NCBI36
NG_007877.1:g.9938_9939del , LRG_125:g.9938_9939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.250_251del
ENST00000698625.1:c.1006_1007del ENSP00000513844.1:p.Lys336GlyfsTer?
ENST00000698626.1:c.1006_1007del ENSP00000513845.1:p.Lys336GlyfsTer?
ENST00000698635.1:c.1006_1007del ENSP00000513850.1:p.Lys336GlyfsTer?
ENST00000376701.5:c.1006_1007del MANE Select ENSP00000365891.4:p.Lys336GlyfsTer?
ENST00000376701.4:c.1006_1007del ENSP00000365891.4:p.Lys336GlyfsTer?
ENST00000474174.1:n.250_251del
NM_000377.2:c.1006_1007del , LRG_125t1:c.1006_1007del NP_000368.1:p.Lys336GlyfsTer?
XM_011543977.1:c.932-82_932-81del XP_011542279.1:n.932-82_932-81del
XM_011543977.2:c.932-82_932-81del XP_011542279.1:n.932-82_932-81del
XM_017029786.1:c.1006_1007del XP_016885275.1:p.Lys336GlyfsTer?
NM_000377.3:c.1006_1007del MANE Select NP_000368.1:p.Lys336GlyfsTer?