Canonical Allele Identifier: CA2428355673
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688784_48688787delinsCCCA , CM000685.2:g.48688784_48688787delinsCCCA GRCh38
NC_000023.10:g.48547173_48547176delinsCCCA , CM000685.1:g.48547173_48547176delinsCCCA GRCh37
NC_000023.9:g.48432117_48432120delinsCCCA NCBI36
NG_007877.1:g.9988_9991delinsCCCA , LRG_125:g.9988_9991delinsCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.300_303delinsCCCA
ENST00000698625.1:c.1056_1059delinsCCCA ENSP00000513844.1:p.Pro352=
ENST00000698626.1:c.1056_1059delinsCCCA ENSP00000513845.1:p.Pro352=
ENST00000698635.1:c.1056_1059delinsCCCA ENSP00000513850.1:p.Pro352=
ENST00000376701.5:c.1056_1059delinsCCCA MANE Select ENSP00000365891.4:p.Pro352=
ENST00000376701.4:c.1056_1059delinsCCCA ENSP00000365891.4:p.Pro352=
ENST00000474174.1:n.300_303delinsCCCA
NM_000377.2:c.1056_1059delinsCCCA , LRG_125t1:c.1056_1059delinsCCCA NP_000368.1:p.Pro352=
XM_011543977.1:c.932-32_932-29delinsCCCA XP_011542279.1:n.932-32_932-29delinsCCCA
XM_011543977.2:c.932-32_932-29delinsCCCA XP_011542279.1:n.932-32_932-29delinsCCCA
XM_017029786.1:c.1056_1059delinsCCCA XP_016885275.1:p.Pro352=
NM_000377.3:c.1056_1059delinsCCCA MANE Select NP_000368.1:p.Pro352=