Canonical Allele Identifier: CA2340622060

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861514_49861515delinsTG , CM000681.2:g.49861514_49861515delinsTG	GRCh38
NC_000019.9:g.50364771_50364772delinsTG , CM000681.1:g.50364771_50364772delinsTG	GRCh37
NC_000019.8:g.55056583_55056584delinsTG	NCBI36
NG_027717.1:g.11051_11052delinsCA
NG_050666.1:g.17671_17672delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-5_1387-4delinsCA MANE Select	ENSP00000323511.2:n.1387-5_1387-4delinsCA
ENST00000636840.1:c.59+93_59+94delinsCA
ENST00000322344.7:c.1387-5_1387-4delinsCA	ENSP00000323511.2:n.1387-5_1387-4delinsCA
ENST00000593946.5:c.*1314-5_*1314-4delinsCA	ENSP00000468896.1:n.*1314-5_*1314-4delinsCA
ENST00000594661.5:n.1888-5_1888-4delinsCA
ENST00000595081.5:n.290-5_290-4delinsCA
ENST00000596014.5:c.1387-5_1387-4delinsCA	ENSP00000472300.1:n.1387-5_1387-4delinsCA
ENST00000597965.2:c.94-5_94-4delinsCA	ENSP00000471097.2:n.94-5_94-4delinsCA
ENST00000599454.5:n.307-5_307-4delinsCA
ENST00000600573.5:c.1294-5_1294-4delinsCA	ENSP00000469826.1:n.1294-5_1294-4delinsCA
ENST00000600910.5:c.1277-5_1277-4delinsCA	ENSP00000473137.1:n.1277-5_1277-4delinsCA
ENST00000601816.3:n.454_455delinsCA
ENST00000625216.2:c.468-5_468-4delinsCA	ENSP00000486898.1:n.468-5_468-4delinsCA
ENST00000627232.2:c.1307-5_1307-4delinsCA	ENSP00000486037.1:n.1307-5_1307-4delinsCA
ENST00000631020.2:c.1279-5_1279-4delinsCA	ENSP00000486707.1:n.1279-5_1279-4delinsCA
NM_007254.3:c.1387-5_1387-4delinsCA	NP_009185.2:n.1387-5_1387-4delinsCA
NM_007254.4:c.1387-5_1387-4delinsCA MANE Select	NP_009185.2:n.1387-5_1387-4delinsCA