Canonical Allele Identifier: CA2695229025

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861503_49861506del , CM000681.2:g.49861503_49861506del	GRCh38
NC_000019.9:g.50364760_50364763del , CM000681.1:g.50364760_50364763del	GRCh37
NC_000019.8:g.55056572_55056575del	NCBI36
NG_027717.1:g.11062_11065del
NG_050666.1:g.17660_17663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1393_1396del MANE Select	ENSP00000323511.2:p.Glu465Ter
ENST00000636840.1:c.59+104_59+107del
ENST00000322344.7:c.1393_1396del	ENSP00000323511.2:p.Glu465Ter
ENST00000593946.5:c.*1320_*1323del	ENSP00000468896.1:n.*1320_*1323del
ENST00000594661.5:n.1894_1897del
ENST00000595081.5:n.296_299del
ENST00000596014.5:c.1393_1396del	ENSP00000472300.1:p.Glu465Ter
ENST00000597965.2:c.100_103del	ENSP00000471097.2:p.Glu34Ter
ENST00000599454.5:n.313_316del
ENST00000600573.5:c.1300_1303del	ENSP00000469826.1:p.Glu434Ter
ENST00000600910.5:c.1283_1286del	ENSP00000473137.1:p.Arg428MetfsTer?
ENST00000601816.3:n.465_468del
ENST00000625216.2:c.474_477del	ENSP00000486898.1:n.474_477del
ENST00000627232.2:c.1313_1316del	ENSP00000486037.1:n.1313_1316del
ENST00000631020.2:c.1285_1288del	ENSP00000486707.1:p.Glu429Ter
NM_007254.3:c.1393_1396del	NP_009185.2:p.Glu465Ter
NM_007254.4:c.1393_1396del MANE Select	NP_009185.2:p.Glu465Ter