Canonical Allele Identifier: CA2586460365

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861476-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861477del , CM000681.2:g.49861477del	GRCh38
NC_000019.9:g.50364734del , CM000681.1:g.50364734del	GRCh37
NC_000019.8:g.55056546del	NCBI36
NG_027717.1:g.11089del
NG_050666.1:g.17634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1420del MANE Select	ENSP00000323511.2:p.Val474CysfsTer?
ENST00000636840.1:c.59+131del
ENST00000640501.1:c.26del
ENST00000322344.7:c.1420del	ENSP00000323511.2:p.Val474CysfsTer?
ENST00000593946.5:c.*1347del	ENSP00000468896.1:n.*1347del
ENST00000594661.5:n.1921del
ENST00000595081.5:n.323del
ENST00000596014.5:c.1420del	ENSP00000472300.1:p.Val474CysfsTer?
ENST00000597965.2:c.127del	ENSP00000471097.2:p.Val43CysfsTer?
ENST00000599454.5:n.340del
ENST00000600573.5:c.1327del	ENSP00000469826.1:p.Val443CysfsTer?
ENST00000600910.5:c.1310del	ENSP00000473137.1:p.Arg437LeufsTer?
ENST00000601816.3:n.492del
ENST00000625216.2:c.501del	ENSP00000486898.1:n.501del
ENST00000627232.2:c.1340del	ENSP00000486037.1:n.1340del
ENST00000631020.2:c.1312del	ENSP00000486707.1:p.Val438CysfsTer?
NM_007254.3:c.1420del	NP_009185.2:p.Val474CysfsTer?
NM_007254.4:c.1420del MANE Select	NP_009185.2:p.Val474CysfsTer?