Canonical Allele Identifier: CA2340622056

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861511_49861513delinsCTG , CM000681.2:g.49861511_49861513delinsCTG	GRCh38
NC_000019.9:g.50364768_50364770delinsCTG , CM000681.1:g.50364768_50364770delinsCTG	GRCh37
NC_000019.8:g.55056580_55056582delinsCTG	NCBI36
NG_027717.1:g.11053_11055delinsCAG
NG_050666.1:g.17668_17670delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-3_1387-1delinsCAG MANE Select	ENSP00000323511.2:n.1387-3_1387-1delinsCAG
ENST00000636840.1:c.59+95_59+97delinsCAG
ENST00000322344.7:c.1387-3_1387-1delinsCAG	ENSP00000323511.2:n.1387-3_1387-1delinsCAG
ENST00000593946.5:c.*1314-3_*1314-1delinsCAG	ENSP00000468896.1:n.*1314-3_*1314-1delinsCAG
ENST00000594661.5:n.1888-3_1888-1delinsCAG
ENST00000595081.5:n.290-3_290-1delinsCAG
ENST00000596014.5:c.1387-3_1387-1delinsCAG	ENSP00000472300.1:n.1387-3_1387-1delinsCAG
ENST00000597965.2:c.94-3_94-1delinsCAG	ENSP00000471097.2:n.94-3_94-1delinsCAG
ENST00000599454.5:n.307-3_307-1delinsCAG
ENST00000600573.5:c.1294-3_1294-1delinsCAG	ENSP00000469826.1:n.1294-3_1294-1delinsCAG
ENST00000600910.5:c.1277-3_1277-1delinsCAG	ENSP00000473137.1:n.1277-3_1277-1delinsCAG
ENST00000601816.3:n.456_458delinsCAG
ENST00000625216.2:c.468-3_468-1delinsCAG	ENSP00000486898.1:n.468-3_468-1delinsCAG
ENST00000627232.2:c.1307-3_1307-1delinsCAG	ENSP00000486037.1:n.1307-3_1307-1delinsCAG
ENST00000631020.2:c.1279-3_1279-1delinsCAG	ENSP00000486707.1:n.1279-3_1279-1delinsCAG
NM_007254.3:c.1387-3_1387-1delinsCAG	NP_009185.2:n.1387-3_1387-1delinsCAG
NM_007254.4:c.1387-3_1387-1delinsCAG MANE Select	NP_009185.2:n.1387-3_1387-1delinsCAG