Canonical Allele Identifier: CA633894521

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861782_49861788del , CM000681.2:g.49861782_49861788del	GRCh38
NC_000019.9:g.50365039_50365045del , CM000681.1:g.50365039_50365045del	GRCh37
NC_000019.8:g.55056851_55056857del	NCBI36
NG_027717.1:g.10784_10790del
NG_050666.1:g.17939_17945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1288_1294del MANE Select	ENSP00000323511.2:p.Ser430ProfsTer?
ENST00000322344.7:c.1288_1294del	ENSP00000323511.2:p.Ser430ProfsTer?
ENST00000593946.5:c.*1215_*1221del	ENSP00000468896.1:n.*1215_*1221del
ENST00000594661.5:n.1789_1795del
ENST00000595081.5:n.115_121del
ENST00000596014.5:c.1288_1294del	ENSP00000472300.1:p.Ser430ProfsTer?
ENST00000599454.5:n.132_138del
ENST00000600573.5:c.1195_1201del	ENSP00000469826.1:p.Ser399ProfsTer?
ENST00000600910.5:c.1189-87_1189-81del	ENSP00000473137.1:n.1189-87_1189-81del
ENST00000601816.3:n.187_193del
ENST00000625216.2:c.369_375del	ENSP00000486898.1:n.369_375del
ENST00000627232.2:c.1208_1214del	ENSP00000486037.1:n.1208_1214del
ENST00000631020.2:c.1180_1186del	ENSP00000486707.1:p.Ser394ProfsTer?
NM_007254.3:c.1288_1294del	NP_009185.2:p.Ser430ProfsTer?
NM_007254.4:c.1288_1294del MANE Select	NP_009185.2:p.Ser430ProfsTer?