Canonical Allele Identifier: CA883145415

Gene: PNKP

Linked Data

• dbSNP Id: rs752902474
• gnomAD v3: 19-49861542-A-AGGGGTCAGGGGAGGAGG
• gnomAD v4: 19-49861542-A-AGGGGTCAGGGGAGGAGG
• MyVariant Identifiers: chr19:g.50364799_50364800insGGGGTCAGGGGAGGAGG (hg19) ; chr19:g.49861542_49861543insGGGGTCAGGGGAGGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861554_49861570dup , CM000681.2:g.49861554_49861570dup	GRCh38
NC_000019.9:g.50364811_50364827dup , CM000681.1:g.50364811_50364827dup	GRCh37
NC_000019.8:g.55056623_55056639dup	NCBI36
NG_027717.1:g.11007_11023dup
NG_050666.1:g.17711_17727dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-49_1387-33dup MANE Select	ENSP00000323511.2:n.1387-49_1387-33dup
ENST00000636840.1:c.59+49_59+65dup
ENST00000322344.7:c.1387-49_1387-33dup	ENSP00000323511.2:n.1387-49_1387-33dup
ENST00000593946.5:c.*1314-49_*1314-33dup	ENSP00000468896.1:n.*1314-49_*1314-33dup
ENST00000594661.5:n.1888-49_1888-33dup
ENST00000595081.5:n.290-49_290-33dup
ENST00000596014.5:c.1387-49_1387-33dup	ENSP00000472300.1:n.1387-49_1387-33dup
ENST00000597965.2:c.94-49_94-33dup	ENSP00000471097.2:n.94-49_94-33dup
ENST00000599454.5:n.307-49_307-33dup
ENST00000600573.5:c.1294-49_1294-33dup	ENSP00000469826.1:n.1294-49_1294-33dup
ENST00000600910.5:c.1277-49_1277-33dup	ENSP00000473137.1:n.1277-49_1277-33dup
ENST00000601816.3:n.410_426dup
ENST00000625216.2:c.468-49_468-33dup	ENSP00000486898.1:n.468-49_468-33dup
ENST00000627232.2:c.1307-49_1307-33dup	ENSP00000486037.1:n.1307-49_1307-33dup
ENST00000631020.2:c.1279-49_1279-33dup	ENSP00000486707.1:n.1279-49_1279-33dup
NM_007254.3:c.1387-49_1387-33dup	NP_009185.2:n.1387-49_1387-33dup
NM_007254.4:c.1387-49_1387-33dup MANE Select	NP_009185.2:n.1387-49_1387-33dup