Canonical Allele Identifier: CA2586460607

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861957-A-ATGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861958_49861961dup , CM000681.2:g.49861958_49861961dup	GRCh38
NC_000019.9:g.50365215_50365218dup , CM000681.1:g.50365215_50365218dup	GRCh37
NC_000019.8:g.55057027_55057030dup	NCBI36
NG_027717.1:g.10605_10608dup
NG_050666.1:g.18115_18118dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1189-80_1189-77dup MANE Select	ENSP00000323511.2:n.1189-80_1189-77dup
ENST00000322344.7:c.1189-80_1189-77dup	ENSP00000323511.2:n.1189-80_1189-77dup
ENST00000593706.3:n.705_708dup
ENST00000593946.5:c.*1116-80_*1116-77dup	ENSP00000468896.1:n.*1116-80_*1116-77dup
ENST00000594661.5:n.1690-80_1690-77dup
ENST00000596014.5:c.1189-80_1189-77dup	ENSP00000472300.1:n.1189-80_1189-77dup
ENST00000599454.5:n.33-80_33-77dup
ENST00000600573.5:c.1096-80_1096-77dup	ENSP00000469826.1:n.1096-80_1096-77dup
ENST00000600910.5:c.1188+83_1188+86dup	ENSP00000473137.1:n.1188+83_1188+86dup
ENST00000601816.3:n.88-80_88-77dup
ENST00000625216.2:c.270-80_270-77dup	ENSP00000486898.1:n.270-80_270-77dup
ENST00000627232.2:c.1109-80_1109-77dup	ENSP00000486037.1:n.1109-80_1109-77dup
ENST00000631020.2:c.1081-80_1081-77dup	ENSP00000486707.1:n.1081-80_1081-77dup
NM_007254.3:c.1189-80_1189-77dup	NP_009185.2:n.1189-80_1189-77dup
NM_007254.4:c.1189-80_1189-77dup MANE Select	NP_009185.2:n.1189-80_1189-77dup