Canonical Allele Identifier: CA2586460444

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861674-G-GGCTCGGGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861675_49861684dup , CM000681.2:g.49861675_49861684dup	GRCh38
NC_000019.9:g.50364932_50364941dup , CM000681.1:g.50364932_50364941dup	GRCh37
NC_000019.8:g.55056744_55056753dup	NCBI36
NG_027717.1:g.10882_10891dup
NG_050666.1:g.17832_17841dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1310_1319dup MANE Select	ENSP00000323511.2:p.Ala441CysfsTer?
ENST00000322344.7:c.1310_1319dup	ENSP00000323511.2:p.Ala441CysfsTer?
ENST00000593946.5:c.*1237_*1246dup	ENSP00000468896.1:n.*1237_*1246dup
ENST00000594661.5:n.1811_1820dup
ENST00000595081.5:n.213_222dup
ENST00000596014.5:c.1310_1319dup	ENSP00000472300.1:p.Ala441CysfsTer?
ENST00000597965.2:c.17_26dup	ENSP00000471097.2:p.Ala10CysfsTer?
ENST00000599454.5:n.230_239dup
ENST00000600573.5:c.1217_1226dup	ENSP00000469826.1:p.Ala410CysfsTer?
ENST00000600910.5:c.1200_1209dup	ENSP00000473137.1:p.Arg404ValfsTer30
ENST00000601816.3:n.285_294dup
ENST00000625216.2:c.391_400dup	ENSP00000486898.1:n.391_400dup
ENST00000627232.2:c.1230_1239dup	ENSP00000486037.1:n.1230_1239dup
ENST00000631020.2:c.1202_1211dup	ENSP00000486707.1:p.Ala405CysfsTer?
NM_007254.3:c.1310_1319dup	NP_009185.2:p.Ala441CysfsTer?
NM_007254.4:c.1310_1319dup MANE Select	NP_009185.2:p.Ala441CysfsTer?