Canonical Allele Identifier: CA2586460443

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861672-G-GCGGCTCGGGCACACTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861675_49861692dup , CM000681.2:g.49861675_49861692dup	GRCh38
NC_000019.9:g.50364932_50364949dup , CM000681.1:g.50364932_50364949dup	GRCh37
NC_000019.8:g.55056744_55056761dup	NCBI36
NG_027717.1:g.10876_10893dup
NG_050666.1:g.17832_17849dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1304_1321dup MANE Select	ENSP00000323511.2:p.Ala440_Ala441insValGlnCysAlaArgAla
ENST00000322344.7:c.1304_1321dup	ENSP00000323511.2:p.Ala440_Ala441insValGlnCysAlaArgAla
ENST00000593946.5:c.*1231_*1248dup	ENSP00000468896.1:n.*1231_*1248dup
ENST00000594661.5:n.1805_1822dup
ENST00000595081.5:n.207_224dup
ENST00000596014.5:c.1304_1321dup	ENSP00000472300.1:p.Ala440_Ala441insValGlnCysAlaArgAla
ENST00000597965.2:c.11_28dup	ENSP00000471097.2:p.Ala9_Ala10insValGlnCysAlaArgAla
ENST00000599454.5:n.224_241dup
ENST00000600573.5:c.1211_1228dup	ENSP00000469826.1:p.Ala409_Ala410insValGlnCysAlaArgAla
ENST00000600910.5:c.1194_1211dup	ENSP00000473137.1:p.Arg404_Gly405insProValCysProSerArg
ENST00000601816.3:n.279_296dup
ENST00000625216.2:c.385_402dup	ENSP00000486898.1:n.385_402dup
ENST00000627232.2:c.1224_1241dup	ENSP00000486037.1:n.1224_1241dup
ENST00000631020.2:c.1196_1213dup	ENSP00000486707.1:p.Ala404_Ala405insValGlnCysAlaArgAla
NM_007254.3:c.1304_1321dup	NP_009185.2:p.Ala440_Ala441insValGlnCysAlaArgAla
NM_007254.4:c.1304_1321dup MANE Select	NP_009185.2:p.Ala440_Ala441insValGlnCysAlaArgAla