Canonical Allele Identifier: CA2582231535

Gene: PNKP

Linked Data

• dbSNP Id: rs2122319148
• gnomAD v3: 19-49861668-GC-G
• gnomAD v4: 19-49861668-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861671del , CM000681.2:g.49861671del	GRCh38
NC_000019.9:g.50364928del , CM000681.1:g.50364928del	GRCh37
NC_000019.8:g.55056740del	NCBI36
NG_027717.1:g.10897del
NG_050666.1:g.17828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1325del MANE Select	ENSP00000323511.2:p.Gly442AlafsTer25
ENST00000322344.7:c.1325del	ENSP00000323511.2:p.Gly442AlafsTer25
ENST00000593946.5:c.*1252del	ENSP00000468896.1:n.*1252del
ENST00000594661.5:n.1826del
ENST00000595081.5:n.228del
ENST00000596014.5:c.1325del	ENSP00000472300.1:p.Gly442AlafsTer25
ENST00000597965.2:c.32del	ENSP00000471097.2:p.Gly11AlafsTer25
ENST00000599454.5:n.245del
ENST00000600573.5:c.1232del	ENSP00000469826.1:p.Gly411AlafsTer25
ENST00000600910.5:c.1215del	ENSP00000473137.1:p.Arg406ValfsTer?
ENST00000601816.3:n.300del
ENST00000625216.2:c.406del	ENSP00000486898.1:n.406del
ENST00000627232.2:c.1245del	ENSP00000486037.1:n.1245del
ENST00000631020.2:c.1217del	ENSP00000486707.1:p.Gly406AlafsTer25
NM_007254.3:c.1325del	NP_009185.2:p.Gly442AlafsTer25
NM_007254.4:c.1325del MANE Select	NP_009185.2:p.Gly442AlafsTer25