Canonical Allele Identifier: CA883144634
Gene: PNKP HGNC NCBI

Linked Data

dbSNP Id: rs886037745

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49861266_49861269dup , CM000681.2:g.49861266_49861269dup GRCh38
NC_000019.9:g.50364523_50364526dup , CM000681.1:g.50364523_50364526dup GRCh37
NC_000019.8:g.55056335_55056338dup NCBI36
NG_027717.1:g.11298_11301dup
NG_050666.1:g.17423_17426dup

Transcript Alleles

HGVS Amino-acid change
ENST00000322344.8:c.1546_1549dup MANE Select ENSP00000323511.2:p.Gln517LeufsTer22
ENST00000636840.1:c.59+340_59+343dup
ENST00000322344.7:c.1546_1549dup ENSP00000323511.2:p.Gln517LeufsTer22
ENST00000593946.5:c.*1473_*1476dup ENSP00000468896.1:n.*1473_*1476dup
ENST00000594661.5:n.2047_2050dup
ENST00000595081.5:n.449_452dup
ENST00000596014.5:c.1546_1549dup ENSP00000472300.1:p.Gln517LeufsTer?
ENST00000597965.2:c.336_339dup ENSP00000471097.2:n.336_339dup
ENST00000599454.5:n.466_469dup
ENST00000600573.5:c.1453_1456dup ENSP00000469826.1:p.Gln486LeufsTer?
ENST00000600910.5:c.*68_*71dup ENSP00000473137.1:n.*68_*71dup
ENST00000601816.3:n.618_621dup
ENST00000627232.2:c.1466_1469dup ENSP00000486037.1:n.1466_1469dup
ENST00000631020.2:c.1438_1441dup ENSP00000486707.1:p.Gln481LeufsTer?
NM_007254.3:c.1546_1549dup NP_009185.2:p.Gln517LeufsTer22
NM_007254.4:c.1546_1549dup MANE Select NP_009185.2:p.Gln517LeufsTer22