Canonical Allele Identifier: CA2340622224

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861678_49861680delinsCGG , CM000681.2:g.49861678_49861680delinsCGG	GRCh38
NC_000019.9:g.50364935_50364937delinsCGG , CM000681.1:g.50364935_50364937delinsCGG	GRCh37
NC_000019.8:g.55056747_55056749delinsCGG	NCBI36
NG_027717.1:g.10886_10888delinsCCG
NG_050666.1:g.17835_17837delinsCGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1314_1316delinsCCG MANE Select	ENSP00000323511.2:p.Ala438=
ENST00000322344.7:c.1314_1316delinsCCG	ENSP00000323511.2:p.Ala438=
ENST00000593946.5:c.*1241_*1243delinsCCG	ENSP00000468896.1:n.*1241_*1243delinsCCG
ENST00000594661.5:n.1815_1817delinsCCG
ENST00000595081.5:n.217_219delinsCCG
ENST00000596014.5:c.1314_1316delinsCCG	ENSP00000472300.1:p.Ala438=
ENST00000597965.2:c.21_23delinsCCG	ENSP00000471097.2:p.Ala7=
ENST00000599454.5:n.234_236delinsCCG
ENST00000600573.5:c.1221_1223delinsCCG	ENSP00000469826.1:p.Ala407=
ENST00000600910.5:c.1204_1206delinsCCG	ENSP00000473137.1:p.Pro402=
ENST00000601816.3:n.289_291delinsCCG
ENST00000625216.2:c.395_397delinsCCG	ENSP00000486898.1:n.395_397delinsCCG
ENST00000627232.2:c.1234_1236delinsCCG	ENSP00000486037.1:n.1234_1236delinsCCG
ENST00000631020.2:c.1206_1208delinsCCG	ENSP00000486707.1:p.Ala402=
NM_007254.3:c.1314_1316delinsCCG	NP_009185.2:p.Ala438=
NM_007254.4:c.1314_1316delinsCCG MANE Select	NP_009185.2:p.Ala438=