Canonical Allele Identifier: CA249946

Gene: PNKP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861819_49861820insGTCGATGGCGACCCGTT , CM000681.2:g.49861819_49861820insGTCGATGGCGACCCGTT	GRCh38
NC_000019.9:g.50365076_50365077insGTCGATGGCGACCCGTT , CM000681.1:g.50365076_50365077insGTCGATGGCGACCCGTT	GRCh37
NC_000019.8:g.55056888_55056889insGTCGATGGCGACCCGTT	NCBI36
NG_027717.1:g.10747_10748insACGGGTCGCCATCGACA
NG_050666.1:g.17976_17977insGTCGATGGCGACCCGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1251_1252insACGGGTCGCCATCGACA MANE Select	ENSP00000323511.2:p.Arg418ThrfsTer?
ENST00000322344.7:c.1251_1252insACGGGTCGCCATCGACA	ENSP00000323511.2:p.Arg418ThrfsTer?
ENST00000593706.3:n.847_848insACGGGTCGCCATCGACA
ENST00000593946.5:c.*1178_*1179insACGGGTCGCCATCGACA	ENSP00000468896.1:n.*1178_*1179insACGGGTCGCCATCGACA
ENST00000594661.5:n.1752_1753insACGGGTCGCCATCGACA
ENST00000595081.5:n.78_79insACGGGTCGCCATCGACA
ENST00000596014.5:c.1251_1252insACGGGTCGCCATCGACA	ENSP00000472300.1:p.Arg418ThrfsTer?
ENST00000599454.5:n.95_96insACGGGTCGCCATCGACA
ENST00000600573.5:c.1158_1159insACGGGTCGCCATCGACA	ENSP00000469826.1:p.Arg387ThrfsTer?
ENST00000600910.5:c.1189-124_1189-123insACGGGTCGCCATCGACA	ENSP00000473137.1:n.1189-124_1189-123insACGGGTCGCCATCGACA
ENST00000601816.3:n.150_151insACGGGTCGCCATCGACA
ENST00000625216.2:c.332_333insACGGGTCGCCATCGACA	ENSP00000486898.1:n.332_333insACGGGTCGCCATCGACA
ENST00000627232.2:c.1171_1172insACGGGTCGCCATCGACA	ENSP00000486037.1:n.1171_1172insACGGGTCGCCATCGACA
ENST00000631020.2:c.1143_1144insACGGGTCGCCATCGACA	ENSP00000486707.1:p.Arg382ThrfsTer?
NM_007254.3:c.1251_1252insACGGGTCGCCATCGACA	NP_009185.2:p.Arg418ThrfsTer?
NM_007254.4:c.1251_1252insACGGGTCGCCATCGACA MANE Select	NP_009185.2:p.Arg418ThrfsTer?