Allele Registry

Canonical Allele Identifier: CA316528

Gene: PNKP HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr19:g.49861770_49861777dupACCTGGCG

GRCh38 chr19:g.49861769_49861770insACCTGGCG

GRCh37 chr19:g.50365027_50365034dupACCTGGCG

GRCh37 chr19:g.50365026_50365027insACCTGGCG

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000188472

ClinVar Variation:

206427

dbSNP:

796052861

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861770_49861777dup , CM000681.2:g.49861770_49861777dup	GRCh38
NC_000019.9:g.50365027_50365034dup , CM000681.1:g.50365027_50365034dup	GRCh37
NC_000019.8:g.55056839_55056846dup	NCBI36
NG_027717.1:g.10789_10796dup
NG_050666.1:g.17927_17934dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1293_1298+2dup
ENST00000322344.7:c.1293_1298+2dup
ENST00000593946.5:c.1220_1225+2dup
ENST00000594661.5:n.1794_1799+2dup
ENST00000595081.5:n.120_127dup
ENST00000596014.5:c.1293_1298+2dup
ENST00000599454.5:n.137_144dup
ENST00000600573.5:c.1200_1205+2dup
ENST00000600910.5:c.1189-82_1189-75dup	ENSP00000473137.1:n.1189-82_1189-75dup
ENST00000601816.3:n.192_199dup
ENST00000625216.2:c.374_379+2dup
ENST00000627232.2:c.1213_1218+2dup
ENST00000631020.2:c.1185_1190+2dup
NM_007254.3:c.1293_1298+2dup
NM_007254.4:c.1293_1298+2dup

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