Canonical Allele Identifier: CA2340622195

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861651_49861654delinsAAGC , CM000681.2:g.49861651_49861654delinsAAGC	GRCh38
NC_000019.9:g.50364908_50364911delinsAAGC , CM000681.1:g.50364908_50364911delinsAAGC	GRCh37
NC_000019.8:g.55056720_55056723delinsAAGC	NCBI36
NG_027717.1:g.10912_10915delinsGCTT
NG_050666.1:g.17808_17811delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1340_1343delinsGCTT MANE Select	ENSP00000323511.2:p.Cys447=
ENST00000636840.1:c.13_16delinsGCTT
ENST00000322344.7:c.1340_1343delinsGCTT	ENSP00000323511.2:p.Cys447=
ENST00000593946.5:c.*1267_*1270delinsGCTT	ENSP00000468896.1:n.*1267_*1270delinsGCTT
ENST00000594661.5:n.1841_1844delinsGCTT
ENST00000595081.5:n.243_246delinsGCTT
ENST00000596014.5:c.1340_1343delinsGCTT	ENSP00000472300.1:p.Cys447=
ENST00000597965.2:c.47_50delinsGCTT	ENSP00000471097.2:p.Cys16=
ENST00000599454.5:n.260_263delinsGCTT
ENST00000600573.5:c.1247_1250delinsGCTT	ENSP00000469826.1:p.Cys416=
ENST00000600910.5:c.1230_1233delinsGCTT	ENSP00000473137.1:p.Leu410=
ENST00000601816.3:n.315_318delinsGCTT
ENST00000625216.2:c.421_424delinsGCTT	ENSP00000486898.1:n.421_424delinsGCTT
ENST00000627232.2:c.1260_1263delinsGCTT	ENSP00000486037.1:n.1260_1263delinsGCTT
ENST00000631020.2:c.1232_1235delinsGCTT	ENSP00000486707.1:p.Cys411=
NM_007254.3:c.1340_1343delinsGCTT	NP_009185.2:p.Cys447=
NM_007254.4:c.1340_1343delinsGCTT MANE Select	NP_009185.2:p.Cys447=