Canonical Allele Identifier: CA2576857964

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2732095
• ClinVar RCV Id: RCV003527119
• gnomAD v4: 19-49861490-G-GGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861491_49861494dup , CM000681.2:g.49861491_49861494dup	GRCh38
NC_000019.9:g.50364748_50364751dup , CM000681.1:g.50364748_50364751dup	GRCh37
NC_000019.8:g.55056560_55056563dup	NCBI36
NG_027717.1:g.11072_11075dup
NG_050666.1:g.17648_17651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1403_1406dup MANE Select	ENSP00000323511.2:p.Ser470LeufsTer25
ENST00000636840.1:c.59+114_59+117dup
ENST00000640501.1:c.9_12dup
ENST00000322344.7:c.1403_1406dup	ENSP00000323511.2:p.Ser470LeufsTer25
ENST00000593946.5:c.*1330_*1333dup	ENSP00000468896.1:n.*1330_*1333dup
ENST00000594661.5:n.1904_1907dup
ENST00000595081.5:n.306_309dup
ENST00000596014.5:c.1403_1406dup	ENSP00000472300.1:p.Ser470LeufsTer25
ENST00000597965.2:c.110_113dup	ENSP00000471097.2:p.Ser39LeufsTer31
ENST00000599454.5:n.323_326dup
ENST00000600573.5:c.1310_1313dup	ENSP00000469826.1:p.Ser439LeufsTer25
ENST00000600910.5:c.1293_1296dup	ENSP00000473137.1:p.Leu433ThrfsTer?
ENST00000601816.3:n.475_478dup
ENST00000625216.2:c.484_487dup	ENSP00000486898.1:n.484_487dup
ENST00000627232.2:c.1323_1326dup	ENSP00000486037.1:n.1323_1326dup
ENST00000631020.2:c.1295_1298dup	ENSP00000486707.1:p.Ser434LeufsTer25
NM_007254.3:c.1403_1406dup	NP_009185.2:p.Ser470LeufsTer25
NM_007254.4:c.1403_1406dup MANE Select	NP_009185.2:p.Ser470LeufsTer25