Canonical Allele Identifier: CA2586460629

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862004-A-ACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862005_49862007dup , CM000681.2:g.49862005_49862007dup	GRCh38
NC_000019.9:g.50365262_50365264dup , CM000681.1:g.50365262_50365264dup	GRCh37
NC_000019.8:g.55057074_55057076dup	NCBI36
NG_027717.1:g.10559_10561dup
NG_050666.1:g.18162_18164dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1188+37_1188+39dup MANE Select	ENSP00000323511.2:n.1188+37_1188+39dup
ENST00000322344.7:c.1188+37_1188+39dup	ENSP00000323511.2:n.1188+37_1188+39dup
ENST00000593706.3:n.659_661dup
ENST00000593946.5:c.*1115+37_*1115+39dup	ENSP00000468896.1:n.*1115+37_*1115+39dup
ENST00000594661.5:n.1689+37_1689+39dup
ENST00000596014.5:c.1188+37_1188+39dup	ENSP00000472300.1:n.1188+37_1188+39dup
ENST00000599454.5:n.32+37_32+39dup
ENST00000600573.5:c.1095+37_1095+39dup	ENSP00000469826.1:n.1095+37_1095+39dup
ENST00000600910.5:c.1188+37_1188+39dup	ENSP00000473137.1:n.1188+37_1188+39dup
ENST00000601816.3:n.87+37_87+39dup
ENST00000625216.2:c.269+37_269+39dup	ENSP00000486898.1:n.269+37_269+39dup
ENST00000627232.2:c.1108+37_1108+39dup	ENSP00000486037.1:n.1108+37_1108+39dup
ENST00000631020.2:c.1080+37_1080+39dup	ENSP00000486707.1:n.1080+37_1080+39dup
NM_007254.3:c.1188+37_1188+39dup	NP_009185.2:n.1188+37_1188+39dup
NM_007254.4:c.1188+37_1188+39dup MANE Select	NP_009185.2:n.1188+37_1188+39dup