Canonical Allele Identifier: CA515723391
Community Standard Title: NM_005391.5(PDK3):c.596-58_596-53del
Gene: PDK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.24518875_24518880del , CM000685.2:g.24518875_24518880del GRCh38
NC_000023.10:g.24536992_24536997del , CM000685.1:g.24536992_24536997del GRCh37
NC_000023.9:g.24446913_24446918del NCBI36
NG_016762.1:g.58649_58654del

Transcript Alleles

HGVS Amino-acid Change
NM_005391.5:c.596-58_596-53del MANE Select NP_005382.1:n.596-58_596-53del
ENST00000379162.9:c.596-58_596-53del MANE Select ENSP00000368460.4:n.596-58_596-53del
NM_001142386.2:c.596-58_596-53del NP_001135858.1:n.596-58_596-53del
NM_001142386.3:c.596-58_596-53del NP_001135858.1:n.596-58_596-53del
NM_005391.4:c.596-58_596-53del NP_005382.1:n.596-58_596-53del
ENST00000379162.8:c.596-58_596-53del ENSP00000368460.4:n.596-58_596-53del
ENST00000441463.2:c.596-58_596-53del ENSP00000387536.2:n.596-58_596-53del
ENST00000568479.2:c.596-58_596-53del ENSP00000498864.1:n.596-58_596-53del
ENST00000648777.1:c.596-58_596-53del ENSP00000497727.1:n.596-58_596-53del