Canonical Allele Identifier: CA2586460393

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861557-A-AGGGGGGTCAGGGGGTGCAGCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861562_49861585dup , CM000681.2:g.49861562_49861585dup	GRCh38
NC_000019.9:g.50364819_50364842dup , CM000681.1:g.50364819_50364842dup	GRCh37
NC_000019.8:g.55056631_55056654dup	NCBI36
NG_027717.1:g.10985_11008dup
NG_050666.1:g.17719_17742dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+27_1387-48dup MANE Select	ENSP00000323511.2:n.1386+27_1387-48dup
ENST00000636840.1:c.59+27_59+50dup
ENST00000322344.7:c.1386+27_1387-48dup	ENSP00000323511.2:n.1386+27_1387-48dup
ENST00000593946.5:c.*1313+27_*1314-48dup	ENSP00000468896.1:n.*1313+27_*1314-48dup
ENST00000594661.5:n.1887+27_1888-48dup
ENST00000595081.5:n.289+27_290-48dup
ENST00000596014.5:c.1386+27_1387-48dup	ENSP00000472300.1:n.1386+27_1387-48dup
ENST00000597965.2:c.93+27_94-48dup	ENSP00000471097.2:n.93+27_94-48dup
ENST00000599454.5:n.306+27_307-48dup
ENST00000600573.5:c.1293+27_1294-48dup	ENSP00000469826.1:n.1293+27_1294-48dup
ENST00000600910.5:c.1276+27_1277-48dup	ENSP00000473137.1:n.1276+27_1277-48dup
ENST00000601816.3:n.388_411dup
ENST00000625216.2:c.467+27_468-48dup	ENSP00000486898.1:n.467+27_468-48dup
ENST00000627232.2:c.1306+27_1307-48dup	ENSP00000486037.1:n.1306+27_1307-48dup
ENST00000631020.2:c.1278+27_1279-48dup	ENSP00000486707.1:n.1278+27_1279-48dup
NM_007254.3:c.1386+27_1387-48dup	NP_009185.2:n.1386+27_1387-48dup
NM_007254.4:c.1386+27_1387-48dup MANE Select	NP_009185.2:n.1386+27_1387-48dup