Canonical Allele Identifier: CA2586460551

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861812-C-CGACCCGTTTCCCTTGCTTCAGGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861814_49861838dup , CM000681.2:g.49861814_49861838dup	GRCh38
NC_000019.9:g.50365071_50365095dup , CM000681.1:g.50365071_50365095dup	GRCh37
NC_000019.8:g.55056883_55056907dup	NCBI36
NG_027717.1:g.10729_10753dup
NG_050666.1:g.17971_17995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1233_1257dup MANE Select	ENSP00000323511.2:p.Ala420SerfsTer?
ENST00000322344.7:c.1233_1257dup	ENSP00000323511.2:p.Ala420SerfsTer?
ENST00000593946.5:c.*1160_*1184dup	ENSP00000468896.1:n.*1160_*1184dup
ENST00000594661.5:n.1734_1758dup
ENST00000595081.5:n.60_84dup
ENST00000596014.5:c.1233_1257dup	ENSP00000472300.1:p.Ala420SerfsTer?
ENST00000599454.5:n.77_101dup
ENST00000600573.5:c.1140_1164dup	ENSP00000469826.1:p.Ala389SerfsTer?
ENST00000600910.5:c.1189-142_1189-118dup	ENSP00000473137.1:n.1189-142_1189-118dup
ENST00000601816.3:n.132_156dup
ENST00000625216.2:c.314_338dup	ENSP00000486898.1:n.314_338dup
ENST00000627232.2:c.1153_1177dup	ENSP00000486037.1:n.1153_1177dup
ENST00000631020.2:c.1125_1149dup	ENSP00000486707.1:p.Ala384SerfsTer?
NM_007254.3:c.1233_1257dup	NP_009185.2:p.Ala420SerfsTer?
NM_007254.4:c.1233_1257dup MANE Select	NP_009185.2:p.Ala420SerfsTer?