Canonical Allele Identifier: CA2506219992

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862325del , CM000681.2:g.49862325del	GRCh38
NC_000019.9:g.50365582del , CM000681.1:g.50365582del	GRCh37
NC_000019.8:g.55057394del	NCBI36
NG_027717.1:g.10244del
NG_050666.1:g.18482del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1030-41del MANE Select	ENSP00000323511.2:n.1030-41del
ENST00000322344.7:c.1030-41del	ENSP00000323511.2:n.1030-41del
ENST00000593706.3:n.385-41del
ENST00000593946.5:c.*957-41del	ENSP00000468896.1:n.*957-41del
ENST00000594661.5:n.1531-41del
ENST00000596014.5:c.1030-41del	ENSP00000472300.1:n.1030-41del
ENST00000600573.5:c.937-41del	ENSP00000469826.1:n.937-41del
ENST00000600910.5:c.1030-41del	ENSP00000473137.1:n.1030-41del
ENST00000625216.2:c.207+49del	ENSP00000486898.1:n.207+49del
ENST00000627232.2:c.950-41del	ENSP00000486037.1:n.950-41del
ENST00000627317.1:c.651-41del
ENST00000629179.1:n.801-41del
ENST00000631020.2:c.922-41del	ENSP00000486707.1:n.922-41del
NM_007254.3:c.1030-41del	NP_009185.2:n.1030-41del
NM_007254.4:c.1030-41del MANE Select	NP_009185.2:n.1030-41del