Canonical Allele Identifier: CA2586460687

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862285-C-CGAGGGGCGGGGGACACGCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862289_49862308dup , CM000681.2:g.49862289_49862308dup	GRCh38
NC_000019.9:g.50365546_50365565dup , CM000681.1:g.50365546_50365565dup	GRCh37
NC_000019.8:g.55057358_55057377dup	NCBI36
NG_027717.1:g.10261_10280dup
NG_050666.1:g.18446_18465dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1030-24_1030-5dup MANE Select	ENSP00000323511.2:n.1030-24_1030-5dup
ENST00000322344.7:c.1030-24_1030-5dup	ENSP00000323511.2:n.1030-24_1030-5dup
ENST00000593706.3:n.385-24_385-5dup
ENST00000593946.5:c.*957-24_*957-5dup	ENSP00000468896.1:n.*957-24_*957-5dup
ENST00000594661.5:n.1531-24_1531-5dup
ENST00000596014.5:c.1030-24_1030-5dup	ENSP00000472300.1:n.1030-24_1030-5dup
ENST00000600573.5:c.937-24_937-5dup	ENSP00000469826.1:n.937-24_937-5dup
ENST00000600910.5:c.1030-24_1030-5dup	ENSP00000473137.1:n.1030-24_1030-5dup
ENST00000625216.2:c.207+66_207+85dup	ENSP00000486898.1:n.207+66_207+85dup
ENST00000627232.2:c.950-24_950-5dup	ENSP00000486037.1:n.950-24_950-5dup
ENST00000627317.1:c.651-24_651-5dup
ENST00000629179.1:n.801-24_801-5dup
ENST00000631020.2:c.922-24_922-5dup	ENSP00000486707.1:n.922-24_922-5dup
NM_007254.3:c.1030-24_1030-5dup	NP_009185.2:n.1030-24_1030-5dup
NM_007254.4:c.1030-24_1030-5dup MANE Select	NP_009185.2:n.1030-24_1030-5dup