Canonical Allele Identifier: CA2340622760

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862313_49862314delinsCG , CM000681.2:g.49862313_49862314delinsCG	GRCh38
NC_000019.9:g.50365570_50365571delinsCG , CM000681.1:g.50365570_50365571delinsCG	GRCh37
NC_000019.8:g.55057382_55057383delinsCG	NCBI36
NG_027717.1:g.10252_10253delinsCG
NG_050666.1:g.18470_18471delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1030-33_1030-32delinsCG MANE Select	ENSP00000323511.2:n.1030-33_1030-32delins...
ENST00000322344.7:c.1030-33_1030-32delinsCG	ENSP00000323511.2:n.1030-33_1030-32delins...
ENST00000593706.3:n.385-33_385-32delinsCG
ENST00000593946.5:c.*957-33_*957-32delinsCG	ENSP00000468896.1:n.*957-33_*957-32delins...
ENST00000594661.5:n.1531-33_1531-32delinsCG
ENST00000596014.5:c.1030-33_1030-32delinsCG	ENSP00000472300.1:n.1030-33_1030-32delins...
ENST00000600573.5:c.937-33_937-32delinsCG	ENSP00000469826.1:n.937-33_937-32delinsCG...
ENST00000600910.5:c.1030-33_1030-32delinsCG	ENSP00000473137.1:n.1030-33_1030-32delins...
ENST00000625216.2:c.207+57_207+58delinsCG	ENSP00000486898.1:n.207+57_207+58delinsCG...
ENST00000627232.2:c.950-33_950-32delinsCG	ENSP00000486037.1:n.950-33_950-32delinsCG...
ENST00000627317.1:c.651-33_651-32delinsCG
ENST00000629179.1:n.801-33_801-32delinsCG
ENST00000631020.2:c.922-33_922-32delinsCG	ENSP00000486707.1:n.922-33_922-32delinsCG...
NM_007254.3:c.1030-33_1030-32delinsCG	NP_009185.2:n.1030-33_1030-32delinsCG
NM_007254.4:c.1030-33_1030-32delinsCG MANE Select	NP_009185.2:n.1030-33_1030-32delinsCG