Canonical Allele Identifier: CA2695233795
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688968_48688975del , CM000685.2:g.48688968_48688975del GRCh38
NC_000023.10:g.48547357_48547364del , CM000685.1:g.48547357_48547364del GRCh37
NC_000023.9:g.48432301_48432308del NCBI36
NG_007877.1:g.10172_10179del , LRG_125:g.10172_10179del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.484_491del
ENST00000698625.1:c.1240_1247del ENSP00000513844.1:p.Pro414SerfsTer?
ENST00000698626.1:c.1240_1247del ENSP00000513845.1:p.Pro414SerfsTer?
ENST00000698635.1:c.1240_1247del ENSP00000513850.1:p.Pro414SerfsTer?
ENST00000376701.5:c.1240_1247del MANE Select ENSP00000365891.4:p.Pro414SerfsTer?
ENST00000376701.4:c.1240_1247del ENSP00000365891.4:p.Pro414SerfsTer?
ENST00000474174.1:n.484_491del
NM_000377.2:c.1240_1247del , LRG_125t1:c.1240_1247del NP_000368.1:p.Pro414SerfsTer?
XM_011543977.1:c.1084_1091del XP_011542279.1:p.Pro362SerfsTer?
XM_011543977.2:c.1084_1091del XP_011542279.1:p.Pro362SerfsTer?
XM_017029786.1:c.1240_1247del XP_016885275.1:p.Pro414SerfsTer?
NM_000377.3:c.1240_1247del MANE Select NP_000368.1:p.Pro414SerfsTer?