Canonical Allele Identifier: CA1139666541

Gene: PNKP

Linked Data

• ClinVar Variation Id: 934809
• ClinVar RCV Id: RCV001203278
• dbSNP Id: rs2074764098

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861677_49861678delinsAA , CM000681.2:g.49861677_49861678delinsAA	GRCh38
NC_000019.9:g.50364934_50364935delinsAA , CM000681.1:g.50364934_50364935delinsAA	GRCh37
NC_000019.8:g.55056746_55056747delinsAA	NCBI36
NG_027717.1:g.10888_10889delinsTT
NG_050666.1:g.17834_17835delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1316_1317delinsTT MANE Select	ENSP00000323511.2:p.Arg439Leu
ENST00000322344.7:c.1316_1317delinsTT	ENSP00000323511.2:p.Arg439Leu
ENST00000593946.5:c.*1243_*1244delinsTT	ENSP00000468896.1:n.*1243_*1244delinsTT
ENST00000594661.5:n.1817_1818delinsTT
ENST00000595081.5:n.219_220delinsTT
ENST00000596014.5:c.1316_1317delinsTT	ENSP00000472300.1:p.Arg439Leu
ENST00000597965.2:c.23_24delinsTT	ENSP00000471097.2:p.Arg8Leu
ENST00000599454.5:n.236_237delinsTT
ENST00000600573.5:c.1223_1224delinsTT	ENSP00000469826.1:p.Arg408Leu
ENST00000600910.5:c.1206_1207delinsTT	ENSP00000473137.1:p.Ser403Cys
ENST00000601816.3:n.291_292delinsTT
ENST00000625216.2:c.397_398delinsTT	ENSP00000486898.1:n.397_398delinsTT
ENST00000627232.2:c.1236_1237delinsTT	ENSP00000486037.1:n.1236_1237delinsTT
ENST00000631020.2:c.1208_1209delinsTT	ENSP00000486707.1:p.Arg403Leu
NM_007254.3:c.1316_1317delinsTT	NP_009185.2:p.Arg439Leu
NM_007254.4:c.1316_1317delinsTT MANE Select	NP_009185.2:p.Arg439Leu