Canonical Allele Identifier: CA2340622216

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861673_49861679delinsCGGCTCG , CM000681.2:g.49861673_49861679delinsCGGCTCG	GRCh38
NC_000019.9:g.50364930_50364936delinsCGGCTCG , CM000681.1:g.50364930_50364936delinsCGGCTCG	GRCh37
NC_000019.8:g.55056742_55056748delinsCGGCTCG	NCBI36
NG_027717.1:g.10887_10893delinsCGAGCCG
NG_050666.1:g.17830_17836delinsCGGCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1315_1321delinsCGAGCCG MANE Select	ENSP00000323511.2:p.Arg439=
ENST00000322344.7:c.1315_1321delinsCGAGCCG	ENSP00000323511.2:p.Arg439=
ENST00000593946.5:c.*1242_*1248delinsCGAGCCG	ENSP00000468896.1:n.*1242_*1248delinsCGAGCCG
ENST00000594661.5:n.1816_1822delinsCGAGCCG
ENST00000595081.5:n.218_224delinsCGAGCCG
ENST00000596014.5:c.1315_1321delinsCGAGCCG	ENSP00000472300.1:p.Arg439=
ENST00000597965.2:c.22_28delinsCGAGCCG	ENSP00000471097.2:p.Arg8=
ENST00000599454.5:n.235_241delinsCGAGCCG
ENST00000600573.5:c.1222_1228delinsCGAGCCG	ENSP00000469826.1:p.Arg408=
ENST00000600910.5:c.1205_1211delinsCGAGCCG	ENSP00000473137.1:p.Pro402=
ENST00000601816.3:n.290_296delinsCGAGCCG
ENST00000625216.2:c.396_402delinsCGAGCCG	ENSP00000486898.1:n.396_402delinsCGAGCCG
ENST00000627232.2:c.1235_1241delinsCGAGCCG	ENSP00000486037.1:n.1235_1241delinsCGAGCCG
ENST00000631020.2:c.1207_1213delinsCGAGCCG	ENSP00000486707.1:p.Arg403=
NM_007254.3:c.1315_1321delinsCGAGCCG	NP_009185.2:p.Arg439=
NM_007254.4:c.1315_1321delinsCGAGCCG MANE Select	NP_009185.2:p.Arg439=