Canonical Allele Identifier: CA883147588

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1069274
• ClinVar RCV Id: RCV001381085
• dbSNP Id: rs1163218519
• gnomAD v3: 19-49862415-GA-G
• gnomAD v4: 19-49862415-GA-G
• MyVariant Identifiers: chr19:g.50365673del (hg19) ; chr19:g.49862416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862418del , CM000681.2:g.49862418del	GRCh38
NC_000019.9:g.50365675del , CM000681.1:g.50365675del	GRCh37
NC_000019.8:g.55057487del	NCBI36
NG_027717.1:g.10150del
NG_050666.1:g.18575del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.984del MANE Select	ENSP00000323511.2:p.Leu329SerfsTer?
ENST00000322344.7:c.984del	ENSP00000323511.2:p.Leu329SerfsTer?
ENST00000593706.3:n.339del
ENST00000593946.5:c.*911del	ENSP00000468896.1:n.*911del
ENST00000594661.5:n.1485del
ENST00000596014.5:c.984del	ENSP00000472300.1:p.Leu329SerfsTer?
ENST00000600573.5:c.936+122del	ENSP00000469826.1:n.936+122del
ENST00000600910.5:c.984del	ENSP00000473137.1:p.Leu329SerfsTer?
ENST00000625216.2:c.162del	ENSP00000486898.1:p.Leu55SerfsTer?
ENST00000627232.2:c.904del	ENSP00000486037.1:n.904del
ENST00000627317.1:c.605del
ENST00000629179.1:n.755del
ENST00000631020.2:c.876del	ENSP00000486707.1:p.Leu293SerfsTer?
NM_007254.3:c.984del	NP_009185.2:p.Leu329SerfsTer?
NM_007254.4:c.984del MANE Select	NP_009185.2:p.Leu329SerfsTer?