Canonical Allele Identifier: CA251238

Gene: PNKP

Linked Data

• ClinVar Variation Id: 206429
• ClinVar RCV Id: RCV000188475 ; RCV001387495 ; RCV001814094 ; RCV003243012
• dbSNP Id: rs796052862
• gnomAD v2: 19-50364929-G-GCGGCT
• gnomAD v3: 19-49861672-G-GCGGCT
• gnomAD v4: 19-49861672-G-GCGGCT
• MyVariant Identifiers: chr19:g.50364930_50364934dupCGGCT (hg19) ; chr19:g.50364929_50364930insCGGCT (hg19) ; chr19:g.49861673_49861677dupCGGCT (hg38) ; chr19:g.49861672_49861673insCGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861676_49861680dup , CM000681.2:g.49861676_49861680dup	GRCh38
NC_000019.9:g.50364933_50364937dup , CM000681.1:g.50364933_50364937dup	GRCh37
NC_000019.8:g.55056745_55056749dup	NCBI36
NG_027717.1:g.10889_10893dup
NG_050666.1:g.17833_17837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1317_1321dup MANE Select	ENSP00000323511.2:p.Ala441GlufsTer28
ENST00000322344.7:c.1317_1321dup	ENSP00000323511.2:p.Ala441GlufsTer28
ENST00000593946.5:c.*1244_*1248dup	ENSP00000468896.1:n.*1244_*1248dup
ENST00000594661.5:n.1818_1822dup
ENST00000595081.5:n.220_224dup
ENST00000596014.5:c.1317_1321dup	ENSP00000472300.1:p.Ala441GlufsTer28
ENST00000597965.2:c.24_28dup	ENSP00000471097.2:p.Ala10GlufsTer28
ENST00000599454.5:n.237_241dup
ENST00000600573.5:c.1224_1228dup	ENSP00000469826.1:p.Ala410GlufsTer28
ENST00000600910.5:c.1207_1211dup	ENSP00000473137.1:p.Gly405AlafsTer?
ENST00000601816.3:n.292_296dup
ENST00000625216.2:c.398_402dup	ENSP00000486898.1:n.398_402dup
ENST00000627232.2:c.1237_1241dup	ENSP00000486037.1:n.1237_1241dup
ENST00000631020.2:c.1209_1213dup	ENSP00000486707.1:p.Ala405GlufsTer28
NM_007254.3:c.1317_1321dup	NP_009185.2:p.Ala441GlufsTer28
NM_007254.4:c.1317_1321dup MANE Select	NP_009185.2:p.Ala441GlufsTer28