Canonical Allele Identifier: CA2340621945

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861374_49861376delinsGGT , CM000681.2:g.49861374_49861376delinsGGT	GRCh38
NC_000019.9:g.50364631_50364633delinsGGT , CM000681.1:g.50364631_50364633delinsGGT	GRCh37
NC_000019.8:g.55056443_55056445delinsGGT	NCBI36
NG_027717.1:g.11190_11192delinsACC
NG_050666.1:g.17531_17533delinsGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-11_1449-9delinsACC MANE Select	ENSP00000323511.2:n.1449-11_1449-9delinsACC
ENST00000636840.1:c.59+232_59+234delinsACC
ENST00000640501.1:c.55-15_55-13delinsACC
ENST00000322344.7:c.1449-11_1449-9delinsACC	ENSP00000323511.2:n.1449-11_1449-9delinsACC
ENST00000593946.5:c.*1376-11_*1376-9delinsACC	ENSP00000468896.1:n.*1376-11_*1376-9delinsACC
ENST00000594661.5:n.1950-11_1950-9delinsACC
ENST00000595081.5:n.352-11_352-9delinsACC
ENST00000596014.5:c.1449-11_1449-9delinsACC	ENSP00000472300.1:n.1449-11_1449-9delinsACC
ENST00000597965.2:c.228_230delinsACC	ENSP00000471097.2:n.228_230delinsACC
ENST00000599454.5:n.369-11_369-9delinsACC
ENST00000600573.5:c.1356-11_1356-9delinsACC	ENSP00000469826.1:n.1356-11_1356-9delinsACC
ENST00000600910.5:c.1339-11_1339-9delinsACC	ENSP00000473137.1:n.1339-11_1339-9delinsACC
ENST00000601816.3:n.521-11_521-9delinsACC
ENST00000625216.2:c.530-11_530-9delinsACC	ENSP00000486898.1:n.530-11_530-9delinsACC
ENST00000627232.2:c.1369-11_1369-9delinsACC	ENSP00000486037.1:n.1369-11_1369-9delinsACC
ENST00000631020.2:c.1341-11_1341-9delinsACC	ENSP00000486707.1:n.1341-11_1341-9delinsACC
NM_007254.3:c.1449-11_1449-9delinsACC	NP_009185.2:n.1449-11_1449-9delinsACC
NM_007254.4:c.1449-11_1449-9delinsACC MANE Select	NP_009185.2:n.1449-11_1449-9delinsACC