Canonical Allele Identifier: CA2586460435

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861656-G-GCGGCAGGGGACGCCCGCGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861660_49861680dup , CM000681.2:g.49861660_49861680dup	GRCh38
NC_000019.9:g.50364917_50364937dup , CM000681.1:g.50364917_50364937dup	GRCh37
NC_000019.8:g.55056729_55056749dup	NCBI36
NG_027717.1:g.10889_10909dup
NG_050666.1:g.17817_17837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1317_1337dup MANE Select	ENSP00000323511.2:p.Arg446_Cys447insAlaAlaGlyValProCysArg
ENST00000322344.7:c.1317_1337dup	ENSP00000323511.2:p.Arg446_Cys447insAlaAlaGlyValProCysArg
ENST00000593946.5:c.*1244_*1264dup	ENSP00000468896.1:n.*1244_*1264dup
ENST00000594661.5:n.1818_1838dup
ENST00000595081.5:n.220_240dup
ENST00000596014.5:c.1317_1337dup	ENSP00000472300.1:p.Arg446_Cys447insAlaAlaGlyValProCysArg
ENST00000597965.2:c.24_44dup	ENSP00000471097.2:p.Arg15_Cys16insAlaAlaGlyValProCysArg
ENST00000599454.5:n.237_257dup
ENST00000600573.5:c.1224_1244dup	ENSP00000469826.1:p.Arg415_Cys416insAlaAlaGlyValProCysArg
ENST00000600910.5:c.1207_1227dup	ENSP00000473137.1:p.Pro409_Leu410insSerArgGlyArgProLeuPro
ENST00000601816.3:n.292_312dup
ENST00000625216.2:c.398_418dup	ENSP00000486898.1:n.398_418dup
ENST00000627232.2:c.1237_1257dup	ENSP00000486037.1:n.1237_1257dup
ENST00000631020.2:c.1209_1229dup	ENSP00000486707.1:p.Arg410_Cys411insAlaAlaGlyValProCysArg
NM_007254.3:c.1317_1337dup	NP_009185.2:p.Arg446_Cys447insAlaAlaGlyValProCysArg
NM_007254.4:c.1317_1337dup MANE Select	NP_009185.2:p.Arg446_Cys447insAlaAlaGlyValProCysArg