Canonical Allele Identifier: CA2586460328

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861358-A-ACTG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861361_49861363dup , CM000681.2:g.49861361_49861363dup	GRCh38
NC_000019.9:g.50364618_50364620dup , CM000681.1:g.50364618_50364620dup	GRCh37
NC_000019.8:g.55056430_55056432dup	NCBI36
NG_027717.1:g.11205_11207dup
NG_050666.1:g.17518_17520dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1453_1455dup MANE Select	ENSP00000323511.2:p.Gln485_Phe486insGln
ENST00000636840.1:c.59+247_59+249dup
ENST00000640501.1:c.55_57dup
ENST00000322344.7:c.1453_1455dup	ENSP00000323511.2:p.Gln485_Phe486insGln
ENST00000593946.5:c.*1380_*1382dup	ENSP00000468896.1:n.*1380_*1382dup
ENST00000594661.5:n.1954_1956dup
ENST00000595081.5:n.356_358dup
ENST00000596014.5:c.1453_1455dup	ENSP00000472300.1:p.Gln485_Phe486insGln
ENST00000597965.2:c.243_245dup	ENSP00000471097.2:n.243_245dup
ENST00000599454.5:n.373_375dup
ENST00000600573.5:c.1360_1362dup	ENSP00000469826.1:p.Gln454_Phe455insGln
ENST00000600910.5:c.1343_1345dup	ENSP00000473137.1:p.Ala448_Val449insAla
ENST00000601816.3:n.525_527dup
ENST00000625216.2:c.534_536dup	ENSP00000486898.1:n.534_536dup
ENST00000627232.2:c.1373_1375dup	ENSP00000486037.1:n.1373_1375dup
ENST00000631020.2:c.1345_1347dup	ENSP00000486707.1:p.Gln449_Phe450insGln
NM_007254.3:c.1453_1455dup	NP_009185.2:p.Gln485_Phe486insGln
NM_007254.4:c.1453_1455dup MANE Select	NP_009185.2:p.Gln485_Phe486insGln