Canonical Allele Identifier: CA9586456

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2585035
• ClinVar RCV Id: RCV003340935
• dbSNP Id: rs770344860
• ExAC: 19:50364933 C / CTCGG
• gnomAD v2: 19-50364933-C-CTCGG
• gnomAD v4: 19-49861676-C-CTCGG
• MyVariant Identifiers: chr19:g.50364933_50364934insTCGG (hg19) ; chr19:g.49861676_49861677insTCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861677_49861680dup , CM000681.2:g.49861677_49861680dup	GRCh38
NC_000019.9:g.50364934_50364937dup , CM000681.1:g.50364934_50364937dup	GRCh37
NC_000019.8:g.55056746_55056749dup	NCBI36
NG_027717.1:g.10886_10889dup
NG_050666.1:g.17834_17837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1314_1317dup MANE Select	ENSP00000323511.2:p.Ala440ProfsTer?
ENST00000322344.7:c.1314_1317dup	ENSP00000323511.2:p.Ala440ProfsTer?
ENST00000593946.5:c.*1241_*1244dup	ENSP00000468896.1:n.*1241_*1244dup
ENST00000594661.5:n.1815_1818dup
ENST00000595081.5:n.217_220dup
ENST00000596014.5:c.1314_1317dup	ENSP00000472300.1:p.Ala440ProfsTer?
ENST00000597965.2:c.21_24dup	ENSP00000471097.2:p.Ala9ProfsTer?
ENST00000599454.5:n.234_237dup
ENST00000600573.5:c.1221_1224dup	ENSP00000469826.1:p.Ala409ProfsTer?
ENST00000600910.5:c.1204_1207dup	ENSP00000473137.1:p.Ser403ThrfsTer29
ENST00000601816.3:n.289_292dup
ENST00000625216.2:c.395_398dup	ENSP00000486898.1:n.395_398dup
ENST00000627232.2:c.1234_1237dup	ENSP00000486037.1:n.1234_1237dup
ENST00000631020.2:c.1206_1209dup	ENSP00000486707.1:p.Ala404ProfsTer?
NM_007254.3:c.1314_1317dup	NP_009185.2:p.Ala440ProfsTer?
NM_007254.4:c.1314_1317dup MANE Select	NP_009185.2:p.Ala440ProfsTer?