Canonical Allele Identifier: CA996724631

Gene: PNKP

Linked Data

• dbSNP Id: rs2074765015
• gnomAD v3: 19-49861704-G-GAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACTCC
• gnomAD v4: 19-49861704-G-GAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861766_49861767insTCCAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCAC , CM000681.2:g.49861766_49861767insTCCAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCAC	GRCh38
NC_000019.9:g.50365023_50365024insTCCAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCAC , CM000681.1:g.50365023_50365024insTCCAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCAC	GRCh37
NC_000019.8:g.55056835_55056836insTCCAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCAC	NCBI36
NG_027717.1:g.10861_10862insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT
NG_050666.1:g.17923_17924insTCCAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT MANE Select	ENSP00000323511.2:n.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTG...
ENST00000322344.7:c.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	ENSP00000323511.2:n.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTG...
ENST00000593946.5:c.*1226-10_*1226-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	ENSP00000468896.1:n.*1226-10_*1226-9insGGAGTGACCGCGGGGCCGTAGG...
ENST00000594661.5:n.1800-10_1800-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT
ENST00000595081.5:n.192_193insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT
ENST00000596014.5:c.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	ENSP00000472300.1:n.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTG...
ENST00000597965.2:c.6-10_6-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	ENSP00000471097.2:n.6-10_6-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGC...
ENST00000599454.5:n.209_210insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT
ENST00000600573.5:c.1206-10_1206-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	ENSP00000469826.1:n.1206-10_1206-9insGGAGTGACCGCGGGGCCGTAGGTG...
ENST00000600910.5:c.1189-10_1189-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	ENSP00000473137.1:n.1189-10_1189-9insGGAGTGACCGCGGGGCCGTAGGTG...
ENST00000601816.3:n.264_265insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT
ENST00000625216.2:c.380-10_380-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	ENSP00000486898.1:n.380-10_380-9insGGAGTGACCGCGGGGCCGTAGGTGGC...
ENST00000627232.2:c.1219-10_1219-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	ENSP00000486037.1:n.1219-10_1219-9insGGAGTGACCGCGGGGCCGTAGGTG...
ENST00000631020.2:c.1191-10_1191-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	ENSP00000486707.1:n.1191-10_1191-9insGGAGTGACCGCGGGGCCGTAGGTG...
NM_007254.3:c.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT	NP_009185.2:n.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGC...
NM_007254.4:c.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGCGGCGGGGTGGGCGGGGCCTGCACATCCAGCTCCTT MANE Select	NP_009185.2:n.1299-10_1299-9insGGAGTGACCGCGGGGCCGTAGGTGGCCTGC...