Canonical Allele Identifier: CA2695233771
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688802dup , CM000685.2:g.48688802dup GRCh38
NC_000023.10:g.48547191dup , CM000685.1:g.48547191dup GRCh37
NC_000023.9:g.48432135dup NCBI36
NG_007877.1:g.10006dup , LRG_125:g.10006dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.318dup
ENST00000698625.1:c.1074dup ENSP00000513844.1:p.Pro359ThrfsTer?
ENST00000698626.1:c.1074dup ENSP00000513845.1:p.Pro359ThrfsTer?
ENST00000698635.1:c.1074dup ENSP00000513850.1:p.Pro359ThrfsTer?
ENST00000376701.5:c.1074dup MANE Select ENSP00000365891.4:p.Pro359ThrfsTer?
ENST00000376701.4:c.1074dup ENSP00000365891.4:p.Pro359ThrfsTer?
ENST00000474174.1:n.318dup
NM_000377.2:c.1074dup , LRG_125t1:c.1074dup NP_000368.1:p.Pro359ThrfsTer?
XM_011543977.1:c.932-14dup XP_011542279.1:n.932-14dup
XM_011543977.2:c.932-14dup XP_011542279.1:n.932-14dup
XM_017029786.1:c.1074dup XP_016885275.1:p.Pro359ThrfsTer?
NM_000377.3:c.1074dup MANE Select NP_000368.1:p.Pro359ThrfsTer?