Canonical Allele Identifier: CA2735962786

Gene: PNKP

Linked Data

• dbSNP Id: rs2122318279

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861582_49861596del , CM000681.2:g.49861582_49861596del	GRCh38
NC_000019.9:g.50364839_50364853del , CM000681.1:g.50364839_50364853del	GRCh37
NC_000019.8:g.55056651_55056665del	NCBI36
NG_027717.1:g.10971_10985del
NG_050666.1:g.17739_17753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+13_1386+27del MANE Select	ENSP00000323511.2:n.1386+13_1386+27del
ENST00000636840.1:c.59+13_59+27del
ENST00000322344.7:c.1386+13_1386+27del	ENSP00000323511.2:n.1386+13_1386+27del
ENST00000593946.5:c.*1313+13_*1313+27del	ENSP00000468896.1:n.*1313+13_*1313+27del
ENST00000594661.5:n.1887+13_1887+27del
ENST00000595081.5:n.289+13_289+27del
ENST00000596014.5:c.1386+13_1386+27del	ENSP00000472300.1:n.1386+13_1386+27del
ENST00000597965.2:c.93+13_93+27del	ENSP00000471097.2:n.93+13_93+27del
ENST00000599454.5:n.306+13_306+27del
ENST00000600573.5:c.1293+13_1293+27del	ENSP00000469826.1:n.1293+13_1293+27del
ENST00000600910.5:c.1276+13_1276+27del	ENSP00000473137.1:n.1276+13_1276+27del
ENST00000601816.3:n.374_388del
ENST00000625216.2:c.467+13_467+27del	ENSP00000486898.1:n.467+13_467+27del
ENST00000627232.2:c.1306+13_1306+27del	ENSP00000486037.1:n.1306+13_1306+27del
ENST00000631020.2:c.1278+13_1278+27del	ENSP00000486707.1:n.1278+13_1278+27del
NM_007254.3:c.1386+13_1386+27del	NP_009185.2:n.1386+13_1386+27del
NM_007254.4:c.1386+13_1386+27del MANE Select	NP_009185.2:n.1386+13_1386+27del