Canonical Allele Identifier: CA2814702230

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861668_49861684del , CM000681.2:g.49861668_49861684del	GRCh38
NC_000019.9:g.50364925_50364941del , CM000681.1:g.50364925_50364941del	GRCh37
NC_000019.8:g.55056737_55056753del	NCBI36
NG_027717.1:g.10884_10900del
NG_050666.1:g.17825_17841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1312_1328del MANE Select	ENSP00000323511.2:p.Ala438ProfsTer?
ENST00000322344.7:c.1312_1328del	ENSP00000323511.2:p.Ala438ProfsTer?
ENST00000593946.5:c.*1239_*1255del	ENSP00000468896.1:n.*1239_*1255del
ENST00000594661.5:n.1813_1829del
ENST00000595081.5:n.215_231del
ENST00000596014.5:c.1312_1328del	ENSP00000472300.1:p.Ala438ProfsTer?
ENST00000597965.2:c.19_35del	ENSP00000471097.2:p.Ala7ProfsTer?
ENST00000599454.5:n.232_248del
ENST00000600573.5:c.1219_1235del	ENSP00000469826.1:p.Ala407ProfsTer?
ENST00000600910.5:c.1202_1218del	ENSP00000473137.1:p.Cys401SerfsTer24
ENST00000601816.3:n.287_303del
ENST00000625216.2:c.393_409del	ENSP00000486898.1:n.393_409del
ENST00000627232.2:c.1232_1248del	ENSP00000486037.1:n.1232_1248del
ENST00000631020.2:c.1204_1220del	ENSP00000486707.1:p.Ala402ProfsTer?
NM_007254.3:c.1312_1328del	NP_009185.2:p.Ala438ProfsTer?
NM_007254.4:c.1312_1328del MANE Select	NP_009185.2:p.Ala438ProfsTer?