Canonical Allele Identifier: CA2586460329

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861366-C-CTGGCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861367_49861373dup , CM000681.2:g.49861367_49861373dup	GRCh38
NC_000019.9:g.50364624_50364630dup , CM000681.1:g.50364624_50364630dup	GRCh37
NC_000019.8:g.55056436_55056442dup	NCBI36
NG_027717.1:g.11193_11199dup
NG_050666.1:g.17524_17530dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-8_1449-2dup MANE Select	ENSP00000323511.2:n.1449-8_1449-2dup
ENST00000636840.1:c.59+235_59+241dup
ENST00000640501.1:c.55-12_55-6dup
ENST00000322344.7:c.1449-8_1449-2dup	ENSP00000323511.2:n.1449-8_1449-2dup
ENST00000593946.5:c.*1376-8_*1376-2dup	ENSP00000468896.1:n.*1376-8_*1376-2dup
ENST00000594661.5:n.1950-8_1950-2dup
ENST00000595081.5:n.352-8_352-2dup
ENST00000596014.5:c.1449-8_1449-2dup	ENSP00000472300.1:n.1449-8_1449-2dup
ENST00000597965.2:c.231_237dup	ENSP00000471097.2:n.231_237dup
ENST00000599454.5:n.369-8_369-2dup
ENST00000600573.5:c.1356-8_1356-2dup	ENSP00000469826.1:n.1356-8_1356-2dup
ENST00000600910.5:c.1339-8_1339-2dup	ENSP00000473137.1:n.1339-8_1339-2dup
ENST00000601816.3:n.521-8_521-2dup
ENST00000625216.2:c.530-8_530-2dup	ENSP00000486898.1:n.530-8_530-2dup
ENST00000627232.2:c.1369-8_1369-2dup	ENSP00000486037.1:n.1369-8_1369-2dup
ENST00000631020.2:c.1341-8_1341-2dup	ENSP00000486707.1:n.1341-8_1341-2dup
NM_007254.3:c.1449-8_1449-2dup	NP_009185.2:n.1449-8_1449-2dup
NM_007254.4:c.1449-8_1449-2dup MANE Select	NP_009185.2:n.1449-8_1449-2dup