Canonical Allele Identifier: CA316527

Gene: PNKP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861782_49861788dup , CM000681.2:g.49861782_49861788dup	GRCh38
NC_000019.9:g.50365039_50365045dup , CM000681.1:g.50365039_50365045dup	GRCh37
NC_000019.8:g.55056851_55056857dup	NCBI36
NG_027717.1:g.10784_10790dup
NG_050666.1:g.17939_17945dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1288_1294dup MANE Select	ENSP00000323511.2:p.Ala432GlufsTer?
ENST00000322344.7:c.1288_1294dup	ENSP00000323511.2:p.Ala432GlufsTer?
ENST00000593946.5:c.*1215_*1221dup	ENSP00000468896.1:n.*1215_*1221dup
ENST00000594661.5:n.1789_1795dup
ENST00000595081.5:n.115_121dup
ENST00000596014.5:c.1288_1294dup	ENSP00000472300.1:p.Ala432GlufsTer?
ENST00000599454.5:n.132_138dup
ENST00000600573.5:c.1195_1201dup	ENSP00000469826.1:p.Ala401GlufsTer?
ENST00000600910.5:c.1189-87_1189-81dup	ENSP00000473137.1:n.1189-87_1189-81dup
ENST00000601816.3:n.187_193dup
ENST00000625216.2:c.369_375dup	ENSP00000486898.1:n.369_375dup
ENST00000627232.2:c.1208_1214dup	ENSP00000486037.1:n.1208_1214dup
ENST00000631020.2:c.1180_1186dup	ENSP00000486707.1:p.Ala396GlufsTer?
NM_007254.3:c.1288_1294dup	NP_009185.2:p.Ala432GlufsTer?
NM_007254.4:c.1288_1294dup MANE Select	NP_009185.2:p.Ala432GlufsTer?