Canonical Allele Identifier: CA9586368

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2887834
• ClinVar RCV Id: RCV003638429
• dbSNP Id: rs774200893
• ExAC: 19:50364697 C / CAACA
• gnomAD v2: 19-50364697-C-CAACA
• gnomAD v3: 19-49861440-C-CAACA
• gnomAD v4: 19-49861440-C-CAACA
• MyVariant Identifiers: chr19:g.50364697_50364698insAACA (hg19) ; chr19:g.49861440_49861441insAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861441_49861444dup , CM000681.2:g.49861441_49861444dup	GRCh38
NC_000019.9:g.50364698_50364701dup , CM000681.1:g.50364698_50364701dup	GRCh37
NC_000019.8:g.55056510_55056513dup	NCBI36
NG_027717.1:g.11122_11125dup
NG_050666.1:g.17598_17601dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448+5_1448+8dup MANE Select	ENSP00000323511.2:n.1448+5_1448+8dup
ENST00000636840.1:c.59+164_59+167dup
ENST00000640501.1:c.54+5_54+8dup
ENST00000322344.7:c.1448+5_1448+8dup	ENSP00000323511.2:n.1448+5_1448+8dup
ENST00000593946.5:c.*1375+5_*1375+8dup	ENSP00000468896.1:n.*1375+5_*1375+8dup
ENST00000594661.5:n.1949+5_1949+8dup
ENST00000595081.5:n.351+5_351+8dup
ENST00000596014.5:c.1448+5_1448+8dup	ENSP00000472300.1:n.1448+5_1448+8dup
ENST00000597965.2:c.160_163dup	ENSP00000471097.2:p.Trp55LeufsTer15
ENST00000599454.5:n.368+5_368+8dup
ENST00000600573.5:c.1355+5_1355+8dup	ENSP00000469826.1:n.1355+5_1355+8dup
ENST00000600910.5:c.1338+5_1338+8dup	ENSP00000473137.1:n.1338+5_1338+8dup
ENST00000601816.3:n.520+5_520+8dup
ENST00000625216.2:c.529+5_529+8dup	ENSP00000486898.1:n.529+5_529+8dup
ENST00000627232.2:c.1368+5_1368+8dup	ENSP00000486037.1:n.1368+5_1368+8dup
ENST00000631020.2:c.1340+5_1340+8dup	ENSP00000486707.1:n.1340+5_1340+8dup
NM_007254.3:c.1448+5_1448+8dup	NP_009185.2:n.1448+5_1448+8dup
NM_007254.4:c.1448+5_1448+8dup MANE Select	NP_009185.2:n.1448+5_1448+8dup