Canonical Allele Identifier: CA2340622121

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861565_49861566delinsCA , CM000681.2:g.49861565_49861566delinsCA	GRCh38
NC_000019.9:g.50364822_50364823delinsCA , CM000681.1:g.50364822_50364823delinsCA	GRCh37
NC_000019.8:g.55056634_55056635delinsCA	NCBI36
NG_027717.1:g.11000_11001delinsTG
NG_050666.1:g.17722_17723delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+42_1386+43delinsTG MANE Select	ENSP00000323511.2:n.1386+42_1386+43delinsTG
ENST00000636840.1:c.59+42_59+43delinsTG
ENST00000322344.7:c.1386+42_1386+43delinsTG	ENSP00000323511.2:n.1386+42_1386+43delinsTG
ENST00000593946.5:c.*1313+42_*1313+43delinsTG	ENSP00000468896.1:n.*1313+42_*1313+43delinsTG
ENST00000594661.5:n.1887+42_1887+43delinsTG
ENST00000595081.5:n.289+42_289+43delinsTG
ENST00000596014.5:c.1386+42_1386+43delinsTG	ENSP00000472300.1:n.1386+42_1386+43delinsTG
ENST00000597965.2:c.93+42_93+43delinsTG	ENSP00000471097.2:n.93+42_93+43delinsTG
ENST00000599454.5:n.306+42_306+43delinsTG
ENST00000600573.5:c.1293+42_1293+43delinsTG	ENSP00000469826.1:n.1293+42_1293+43delinsTG
ENST00000600910.5:c.1276+42_1276+43delinsTG	ENSP00000473137.1:n.1276+42_1276+43delinsTG
ENST00000601816.3:n.403_404delinsTG
ENST00000625216.2:c.467+42_467+43delinsTG	ENSP00000486898.1:n.467+42_467+43delinsTG
ENST00000627232.2:c.1306+42_1306+43delinsTG	ENSP00000486037.1:n.1306+42_1306+43delinsTG
ENST00000631020.2:c.1278+42_1278+43delinsTG	ENSP00000486707.1:n.1278+42_1278+43delinsTG
NM_007254.3:c.1386+42_1386+43delinsTG	NP_009185.2:n.1386+42_1386+43delinsTG
NM_007254.4:c.1386+42_1386+43delinsTG MANE Select	NP_009185.2:n.1386+42_1386+43delinsTG