Canonical Allele Identifier: CA2586460442

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861672-G-GCGGCTCGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861674_49861684dup , CM000681.2:g.49861674_49861684dup	GRCh38
NC_000019.9:g.50364931_50364941dup , CM000681.1:g.50364931_50364941dup	GRCh37
NC_000019.8:g.55056743_55056753dup	NCBI36
NG_027717.1:g.10883_10893dup
NG_050666.1:g.17831_17841dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1311_1321dup MANE Select	ENSP00000323511.2:p.Ala441ValfsTer30
ENST00000322344.7:c.1311_1321dup	ENSP00000323511.2:p.Ala441ValfsTer30
ENST00000593946.5:c.*1238_*1248dup	ENSP00000468896.1:n.*1238_*1248dup
ENST00000594661.5:n.1812_1822dup
ENST00000595081.5:n.214_224dup
ENST00000596014.5:c.1311_1321dup	ENSP00000472300.1:p.Ala441ValfsTer30
ENST00000597965.2:c.18_28dup	ENSP00000471097.2:p.Ala10ValfsTer30
ENST00000599454.5:n.231_241dup
ENST00000600573.5:c.1218_1228dup	ENSP00000469826.1:p.Ala410ValfsTer30
ENST00000600910.5:c.1201_1211dup	ENSP00000473137.1:p.Gly405AlafsTer?
ENST00000601816.3:n.286_296dup
ENST00000625216.2:c.392_402dup	ENSP00000486898.1:n.392_402dup
ENST00000627232.2:c.1231_1241dup	ENSP00000486037.1:n.1231_1241dup
ENST00000631020.2:c.1203_1213dup	ENSP00000486707.1:p.Ala405ValfsTer30
NM_007254.3:c.1311_1321dup	NP_009185.2:p.Ala441ValfsTer30
NM_007254.4:c.1311_1321dup MANE Select	NP_009185.2:p.Ala441ValfsTer30