Canonical Allele Identifier: CA2695234061
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688455_48688458del , CM000685.2:g.48688455_48688458del GRCh38
NC_000023.10:g.48546844_48546847del , CM000685.1:g.48546844_48546847del GRCh37
NC_000023.9:g.48431788_48431791del NCBI36
NG_007877.1:g.9659_9662del , LRG_125:g.9659_9662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.175+2_175+5del
ENST00000698625.1:c.931+2_931+5del ENSP00000513844.1:n.931+2_931+5del
ENST00000698626.1:c.931+2_931+5del ENSP00000513845.1:n.931+2_931+5del
ENST00000698635.1:c.931+2_931+5del ENSP00000513850.1:n.931+2_931+5del
ENST00000376701.5:c.931+2_931+5del MANE Select ENSP00000365891.4:n.931+2_931+5del
ENST00000376701.4:c.931+2_931+5del ENSP00000365891.4:n.931+2_931+5del
ENST00000474174.1:n.175+2_175+5del
NM_000377.2:c.931+2_931+5del , LRG_125t1:c.931+2_931+5del NP_000368.1:n.931+2_931+5del
XM_011543977.1:c.931+2_931+5del XP_011542279.1:n.931+2_931+5del
XM_011543977.2:c.931+2_931+5del XP_011542279.1:n.931+2_931+5del
XM_017029786.1:c.931+2_931+5del XP_016885275.1:n.931+2_931+5del
NM_000377.3:c.931+2_931+5del MANE Select NP_000368.1:n.931+2_931+5del