Canonical Allele Identifier: CA2340621956

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861387_49861388delinsAG , CM000681.2:g.49861387_49861388delinsAG	GRCh38
NC_000019.9:g.50364644_50364645delinsAG , CM000681.1:g.50364644_50364645delinsAG	GRCh37
NC_000019.8:g.55056456_55056457delinsAG	NCBI36
NG_027717.1:g.11178_11179delinsCT
NG_050666.1:g.17544_17545delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-23_1449-22delinsCT MANE Select	ENSP00000323511.2:n.1449-23_1449-22delinsCT
ENST00000636840.1:c.59+220_59+221delinsCT
ENST00000640501.1:c.55-27_55-26delinsCT
ENST00000322344.7:c.1449-23_1449-22delinsCT	ENSP00000323511.2:n.1449-23_1449-22delinsCT
ENST00000593946.5:c.*1376-23_*1376-22delinsCT	ENSP00000468896.1:n.*1376-23_*1376-22delinsCT
ENST00000594661.5:n.1950-23_1950-22delinsCT
ENST00000595081.5:n.352-23_352-22delinsCT
ENST00000596014.5:c.1449-23_1449-22delinsCT	ENSP00000472300.1:n.1449-23_1449-22delinsCT
ENST00000597965.2:c.216_217delinsCT	ENSP00000471097.2:n.216_217delinsCT
ENST00000599454.5:n.369-23_369-22delinsCT
ENST00000600573.5:c.1356-23_1356-22delinsCT	ENSP00000469826.1:n.1356-23_1356-22delinsCT
ENST00000600910.5:c.1339-23_1339-22delinsCT	ENSP00000473137.1:n.1339-23_1339-22delinsCT
ENST00000601816.3:n.521-23_521-22delinsCT
ENST00000625216.2:c.530-23_530-22delinsCT	ENSP00000486898.1:n.530-23_530-22delinsCT
ENST00000627232.2:c.1369-23_1369-22delinsCT	ENSP00000486037.1:n.1369-23_1369-22delinsCT
ENST00000631020.2:c.1341-23_1341-22delinsCT	ENSP00000486707.1:n.1341-23_1341-22delinsCT
NM_007254.3:c.1449-23_1449-22delinsCT	NP_009185.2:n.1449-23_1449-22delinsCT
NM_007254.4:c.1449-23_1449-22delinsCT MANE Select	NP_009185.2:n.1449-23_1449-22delinsCT