Canonical Allele Identifier: CA327706740
Community Standard Title: NM_005391.5(PDK3):c.1077+13_1077+16del
Gene: PDK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.24531783_24531786del , CM000685.2:g.24531783_24531786del GRCh38
NC_000023.10:g.24549900_24549903del , CM000685.1:g.24549900_24549903del GRCh37
NC_000023.9:g.24459821_24459824del NCBI36
NG_016762.1:g.71557_71560del

Transcript Alleles

HGVS Amino-acid Change
NM_005391.5:c.1077+13_1077+16del MANE Select NP_005382.1:n.1077+13_1077+16del
ENST00000379162.9:c.1077+13_1077+16del MANE Select ENSP00000368460.4:n.1077+13_1077+16del
NM_001142386.2:c.1077+13_1077+16del NP_001135858.1:n.1077+13_1077+16del
NM_001142386.3:c.1077+13_1077+16del NP_001135858.1:n.1077+13_1077+16del
NM_005391.4:c.1077+13_1077+16del NP_005382.1:n.1077+13_1077+16del
ENST00000379162.8:c.1077+13_1077+16del ENSP00000368460.4:n.1077+13_1077+16del
ENST00000441463.2:c.1077+13_1077+16del ENSP00000387536.2:n.1077+13_1077+16del
ENST00000568479.2:c.1077+13_1077+16del ENSP00000498864.1:n.1077+13_1077+16del
ENST00000648777.1:c.1077+13_1077+16del ENSP00000497727.1:n.1077+13_1077+16del
ENST00000688031.1:n.1205+13_1205+16del
ENST00000688551.1:n.2419+13_2419+16del