Canonical Allele Identifier: CA2814702209

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861468_49861474del , CM000681.2:g.49861468_49861474del	GRCh38
NC_000019.9:g.50364725_50364731del , CM000681.1:g.50364725_50364731del	GRCh37
NC_000019.8:g.55056537_55056543del	NCBI36
NG_027717.1:g.11093_11099del
NG_050666.1:g.17625_17631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1424_1430del MANE Select	ENSP00000323511.2:p.Ser475TrpfsTer?
ENST00000636840.1:c.59+135_59+141del
ENST00000640501.1:c.30_36del
ENST00000322344.7:c.1424_1430del	ENSP00000323511.2:p.Ser475TrpfsTer?
ENST00000593946.5:c.*1351_*1357del	ENSP00000468896.1:n.*1351_*1357del
ENST00000594661.5:n.1925_1931del
ENST00000595081.5:n.327_333del
ENST00000596014.5:c.1424_1430del	ENSP00000472300.1:p.Ser475TrpfsTer?
ENST00000597965.2:c.131_137del	ENSP00000471097.2:p.Ser44TrpfsTer?
ENST00000599454.5:n.344_350del
ENST00000600573.5:c.1331_1337del	ENSP00000469826.1:p.Ser444TrpfsTer?
ENST00000600910.5:c.1314_1320del	ENSP00000473137.1:p.Arg439ValfsTer?
ENST00000601816.3:n.496_502del
ENST00000625216.2:c.505_511del	ENSP00000486898.1:n.505_511del
ENST00000627232.2:c.1344_1350del	ENSP00000486037.1:n.1344_1350del
ENST00000631020.2:c.1316_1322del	ENSP00000486707.1:p.Ser439TrpfsTer?
NM_007254.3:c.1424_1430del	NP_009185.2:p.Ser475TrpfsTer?
NM_007254.4:c.1424_1430del MANE Select	NP_009185.2:p.Ser475TrpfsTer?