Canonical Allele Identifier: CA2695229026

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861665_49861679delinsACCC , CM000681.2:g.49861665_49861679delinsACCC	GRCh38
NC_000019.9:g.50364922_50364936delinsACCC , CM000681.1:g.50364922_50364936delinsACCC	GRCh37
NC_000019.8:g.55056734_55056748delinsACCC	NCBI36
NG_027717.1:g.10887_10901delinsGGGT
NG_050666.1:g.17822_17836delinsACCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1315_1329delinsGGGT MANE Select	ENSP00000323511.2:p.Arg439GlyfsTer?
ENST00000322344.7:c.1315_1329delinsGGGT	ENSP00000323511.2:p.Arg439GlyfsTer?
ENST00000593946.5:c.*1242_*1256delinsGGGT	ENSP00000468896.1:n.*1242_*1256delinsGGGT
ENST00000594661.5:n.1816_1830delinsGGGT
ENST00000595081.5:n.218_232delinsGGGT
ENST00000596014.5:c.1315_1329delinsGGGT	ENSP00000472300.1:p.Arg439GlyfsTer?
ENST00000597965.2:c.22_36delinsGGGT	ENSP00000471097.2:p.Arg8GlyfsTer?
ENST00000599454.5:n.235_249delinsGGGT
ENST00000600573.5:c.1222_1236delinsGGGT	ENSP00000469826.1:p.Arg408GlyfsTer?
ENST00000600910.5:c.1205_1219delinsGGGT	ENSP00000473137.1:p.Pro402ArgfsTer25
ENST00000601816.3:n.290_304delinsGGGT
ENST00000625216.2:c.396_410delinsGGGT	ENSP00000486898.1:n.396_410delinsGGGT
ENST00000627232.2:c.1235_1249delinsGGGT	ENSP00000486037.1:n.1235_1249delinsGGGT
ENST00000631020.2:c.1207_1221delinsGGGT	ENSP00000486707.1:p.Arg403GlyfsTer?
NM_007254.3:c.1315_1329delinsGGGT	NP_009185.2:p.Arg439GlyfsTer?
NM_007254.4:c.1315_1329delinsGGGT MANE Select	NP_009185.2:p.Arg439GlyfsTer?