Canonical Allele Identifier: CA2586460366

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861481-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861484_49861485del , CM000681.2:g.49861484_49861485del	GRCh38
NC_000019.9:g.50364741_50364742del , CM000681.1:g.50364741_50364742del	GRCh37
NC_000019.8:g.55056553_55056554del	NCBI36
NG_027717.1:g.11083_11084del
NG_050666.1:g.17641_17642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1414_1415del MANE Select	ENSP00000323511.2:p.Ile472ProfsTer21
ENST00000636840.1:c.59+125_59+126del
ENST00000640501.1:c.20_21del
ENST00000322344.7:c.1414_1415del	ENSP00000323511.2:p.Ile472ProfsTer21
ENST00000593946.5:c.*1341_*1342del	ENSP00000468896.1:n.*1341_*1342del
ENST00000594661.5:n.1915_1916del
ENST00000595081.5:n.317_318del
ENST00000596014.5:c.1414_1415del	ENSP00000472300.1:p.Ile472ProfsTer21
ENST00000597965.2:c.121_122del	ENSP00000471097.2:p.Ile41ProfsTer27
ENST00000599454.5:n.334_335del
ENST00000600573.5:c.1321_1322del	ENSP00000469826.1:p.Ile441ProfsTer21
ENST00000600910.5:c.1304_1305del	ENSP00000473137.1:p.Tyr435SerfsTer?
ENST00000601816.3:n.486_487del
ENST00000625216.2:c.495_496del	ENSP00000486898.1:n.495_496del
ENST00000627232.2:c.1334_1335del	ENSP00000486037.1:n.1334_1335del
ENST00000631020.2:c.1306_1307del	ENSP00000486707.1:p.Ile436ProfsTer21
NM_007254.3:c.1414_1415del	NP_009185.2:p.Ile472ProfsTer21
NM_007254.4:c.1414_1415del MANE Select	NP_009185.2:p.Ile472ProfsTer21