Canonical Allele Identifier: CA2586460347

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861408-G-GCCCAGCCAGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861412_49861423dup , CM000681.2:g.49861412_49861423dup	GRCh38
NC_000019.9:g.50364669_50364680dup , CM000681.1:g.50364669_50364680dup	GRCh37
NC_000019.8:g.55056481_55056492dup	NCBI36
NG_027717.1:g.11146_11157dup
NG_050666.1:g.17569_17580dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448+29_1448+40dup MANE Select	ENSP00000323511.2:n.1448+29_1448+40dup
ENST00000636840.1:c.59+188_59+199dup
ENST00000640501.1:c.54+29_54+40dup
ENST00000322344.7:c.1448+29_1448+40dup	ENSP00000323511.2:n.1448+29_1448+40dup
ENST00000593946.5:c.*1375+29_*1375+40dup	ENSP00000468896.1:n.*1375+29_*1375+40dup
ENST00000594661.5:n.1949+29_1949+40dup
ENST00000595081.5:n.351+29_351+40dup
ENST00000596014.5:c.1448+29_1448+40dup	ENSP00000472300.1:n.1448+29_1448+40dup
ENST00000597965.2:c.184_195dup	ENSP00000471097.2:n.184_195dup
ENST00000599454.5:n.368+29_368+40dup
ENST00000600573.5:c.1355+29_1355+40dup	ENSP00000469826.1:n.1355+29_1355+40dup
ENST00000600910.5:c.1338+29_1338+40dup	ENSP00000473137.1:n.1338+29_1338+40dup
ENST00000601816.3:n.520+29_520+40dup
ENST00000625216.2:c.529+29_529+40dup	ENSP00000486898.1:n.529+29_529+40dup
ENST00000627232.2:c.1368+29_1368+40dup	ENSP00000486037.1:n.1368+29_1368+40dup
ENST00000631020.2:c.1340+29_1340+40dup	ENSP00000486707.1:n.1340+29_1340+40dup
NM_007254.3:c.1448+29_1448+40dup	NP_009185.2:n.1448+29_1448+40dup
NM_007254.4:c.1448+29_1448+40dup MANE Select	NP_009185.2:n.1448+29_1448+40dup