Canonical Allele Identifier: CA2340622047

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861500_49861502delinsATC , CM000681.2:g.49861500_49861502delinsATC	GRCh38
NC_000019.9:g.50364757_50364759delinsATC , CM000681.1:g.50364757_50364759delinsATC	GRCh37
NC_000019.8:g.55056569_55056571delinsATC	NCBI36
NG_027717.1:g.11064_11066delinsGAT
NG_050666.1:g.17657_17659delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1395_1397delinsGAT MANE Select	ENSP00000323511.2:p.Glu465=
ENST00000636840.1:c.59+106_59+108delinsGAT
ENST00000640501.1:c.1_3delinsGAT
ENST00000322344.7:c.1395_1397delinsGAT	ENSP00000323511.2:p.Glu465=
ENST00000593946.5:c.*1322_*1324delinsGAT	ENSP00000468896.1:n.*1322_*1324delinsGAT
ENST00000594661.5:n.1896_1898delinsGAT
ENST00000595081.5:n.298_300delinsGAT
ENST00000596014.5:c.1395_1397delinsGAT	ENSP00000472300.1:p.Glu465=
ENST00000597965.2:c.102_104delinsGAT	ENSP00000471097.2:p.Glu34=
ENST00000599454.5:n.315_317delinsGAT
ENST00000600573.5:c.1302_1304delinsGAT	ENSP00000469826.1:p.Glu434=
ENST00000600910.5:c.1285_1287delinsGAT	ENSP00000473137.1:p.Asp429=
ENST00000601816.3:n.467_469delinsGAT
ENST00000625216.2:c.476_478delinsGAT	ENSP00000486898.1:n.476_478delinsGAT
ENST00000627232.2:c.1315_1317delinsGAT	ENSP00000486037.1:n.1315_1317delinsGAT
ENST00000631020.2:c.1287_1289delinsGAT	ENSP00000486707.1:p.Glu429=
NM_007254.3:c.1395_1397delinsGAT	NP_009185.2:p.Glu465=
NM_007254.4:c.1395_1397delinsGAT MANE Select	NP_009185.2:p.Glu465=