Canonical Allele Identifier: CA2340621953

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861383_49861385delinsAGT , CM000681.2:g.49861383_49861385delinsAGT	GRCh38
NC_000019.9:g.50364640_50364642delinsAGT , CM000681.1:g.50364640_50364642delinsAGT	GRCh37
NC_000019.8:g.55056452_55056454delinsAGT	NCBI36
NG_027717.1:g.11181_11183delinsACT
NG_050666.1:g.17540_17542delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-20_1449-18delinsACT MANE Select	ENSP00000323511.2:n.1449-20_1449-18delinsACT
ENST00000636840.1:c.59+223_59+225delinsACT
ENST00000640501.1:c.55-24_55-22delinsACT
ENST00000322344.7:c.1449-20_1449-18delinsACT	ENSP00000323511.2:n.1449-20_1449-18delinsACT
ENST00000593946.5:c.*1376-20_*1376-18delinsACT	ENSP00000468896.1:n.*1376-20_*1376-18delinsACT
ENST00000594661.5:n.1950-20_1950-18delinsACT
ENST00000595081.5:n.352-20_352-18delinsACT
ENST00000596014.5:c.1449-20_1449-18delinsACT	ENSP00000472300.1:n.1449-20_1449-18delinsACT
ENST00000597965.2:c.219_221delinsACT	ENSP00000471097.2:n.219_221delinsACT
ENST00000599454.5:n.369-20_369-18delinsACT
ENST00000600573.5:c.1356-20_1356-18delinsACT	ENSP00000469826.1:n.1356-20_1356-18delinsACT
ENST00000600910.5:c.1339-20_1339-18delinsACT	ENSP00000473137.1:n.1339-20_1339-18delinsACT
ENST00000601816.3:n.521-20_521-18delinsACT
ENST00000625216.2:c.530-20_530-18delinsACT	ENSP00000486898.1:n.530-20_530-18delinsACT
ENST00000627232.2:c.1369-20_1369-18delinsACT	ENSP00000486037.1:n.1369-20_1369-18delinsACT
ENST00000631020.2:c.1341-20_1341-18delinsACT	ENSP00000486707.1:n.1341-20_1341-18delinsACT
NM_007254.3:c.1449-20_1449-18delinsACT	NP_009185.2:n.1449-20_1449-18delinsACT
NM_007254.4:c.1449-20_1449-18delinsACT MANE Select	NP_009185.2:n.1449-20_1449-18delinsACT