Canonical Allele Identifier: CA920127703
Gene: PNKP HGNC NCBI

Linked Data

dbSNP Id: rs1600414282

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49861367_49861376dup , CM000681.2:g.49861367_49861376dup GRCh38
NC_000019.9:g.50364624_50364633dup , CM000681.1:g.50364624_50364633dup GRCh37
NC_000019.8:g.55056436_55056445dup NCBI36
NG_027717.1:g.11190_11199dup
NG_050666.1:g.17524_17533dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000322344.8:c.1449-11_1449-2dup MANE Select ENSP00000323511.2:n.1449-11_1449-2dup
ENST00000636840.1:c.59+232_59+241dup
ENST00000640501.1:c.55-15_55-6dup
ENST00000322344.7:c.1449-11_1449-2dup ENSP00000323511.2:n.1449-11_1449-2dup
ENST00000593946.5:c.*1376-11_*1376-2dup ENSP00000468896.1:n.*1376-11_*1376-2dup
ENST00000594661.5:n.1950-11_1950-2dup
ENST00000595081.5:n.352-11_352-2dup
ENST00000596014.5:c.1449-11_1449-2dup ENSP00000472300.1:n.1449-11_1449-2dup
ENST00000597965.2:c.228_237dup ENSP00000471097.2:n.228_237dup
ENST00000599454.5:n.369-11_369-2dup
ENST00000600573.5:c.1356-11_1356-2dup ENSP00000469826.1:n.1356-11_1356-2dup
ENST00000600910.5:c.1339-11_1339-2dup ENSP00000473137.1:n.1339-11_1339-2dup
ENST00000601816.3:n.521-11_521-2dup
ENST00000625216.2:c.530-11_530-2dup ENSP00000486898.1:n.530-11_530-2dup
ENST00000627232.2:c.1369-11_1369-2dup ENSP00000486037.1:n.1369-11_1369-2dup
ENST00000631020.2:c.1341-11_1341-2dup ENSP00000486707.1:n.1341-11_1341-2dup
NM_007254.3:c.1449-11_1449-2dup NP_009185.2:n.1449-11_1449-2dup
NM_007254.4:c.1449-11_1449-2dup MANE Select NP_009185.2:n.1449-11_1449-2dup