Canonical Allele Identifier: CA2814702233

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861673_49861679del , CM000681.2:g.49861673_49861679del	GRCh38
NC_000019.9:g.50364930_50364936del , CM000681.1:g.50364930_50364936del	GRCh37
NC_000019.8:g.55056742_55056748del	NCBI36
NG_027717.1:g.10889_10895del
NG_050666.1:g.17830_17836del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1317_1323del MANE Select	ENSP00000323511.2:p.Ala441SerfsTer24
ENST00000322344.7:c.1317_1323del	ENSP00000323511.2:p.Ala441SerfsTer24
ENST00000593946.5:c.*1244_*1250del	ENSP00000468896.1:n.*1244_*1250del
ENST00000594661.5:n.1818_1824del
ENST00000595081.5:n.220_226del
ENST00000596014.5:c.1317_1323del	ENSP00000472300.1:p.Ala441SerfsTer24
ENST00000597965.2:c.24_30del	ENSP00000471097.2:p.Ala10SerfsTer24
ENST00000599454.5:n.237_243del
ENST00000600573.5:c.1224_1230del	ENSP00000469826.1:p.Ala410SerfsTer24
ENST00000600910.5:c.1207_1213del	ENSP00000473137.1:p.Ser403GlyfsTer?
ENST00000601816.3:n.292_298del
ENST00000625216.2:c.398_404del	ENSP00000486898.1:n.398_404del
ENST00000627232.2:c.1237_1243del	ENSP00000486037.1:n.1237_1243del
ENST00000631020.2:c.1209_1215del	ENSP00000486707.1:p.Ala405SerfsTer24
NM_007254.3:c.1317_1323del	NP_009185.2:p.Ala441SerfsTer24
NM_007254.4:c.1317_1323del MANE Select	NP_009185.2:p.Ala441SerfsTer24