Canonical Allele Identifier: CA209082

Gene: PNKP

Linked Data

• ClinVar Variation Id: 206428
• ClinVar RCV Id: RCV000188474 ; RCV000528550 ; RCV001705033 ; RCV002381635 ; RCV004537580
• dbSNP Id: rs760249644
• ExAC: 19:50365022 A / ACGCTACCTGGCGCGGCTCG
• gnomAD v2: 19-50365022-A-ACGCTACCTGGCGCGGCTCG
• gnomAD v3: 19-49861765-A-ACGCTACCTGGCGCGGCTCG
• gnomAD v4: 19-49861765-A-ACGCTACCTGGCGCGGCTCG
• MyVariant Identifiers: chr19:g.50365025_50365043dup19 (hg19) ; chr19:g.50365023_50365041dup19 (hg19) ; chr19:g.50365032_50365033insCGCGGCTCGCGCTACCTGG (hg19) ; chr19:g.50365022_50365023insCGCTACCTGGCGCGGCTCG (hg19) ; chr19:g.49861768_49861786dup19 (hg38) ; chr19:g.49861766_49861784dup19 (hg38) ; chr19:g.49861765_49861766insCGCTACCTGGCGCGGCTCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861768_49861786dup , CM000681.2:g.49861768_49861786dup	GRCh38
NC_000019.9:g.50365025_50365043dup , CM000681.1:g.50365025_50365043dup	GRCh37
NC_000019.8:g.55056837_55056855dup	NCBI36
NG_027717.1:g.10782_10800dup
NG_050666.1:g.17925_17943dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1286_1298+6dup
ENST00000322344.7:c.1286_1298+6dup
ENST00000593946.5:c.*1213_*1225+6dup
ENST00000594661.5:n.1787_1799+6dup
ENST00000595081.5:n.113_131dup
ENST00000596014.5:c.1286_1298+6dup
ENST00000599454.5:n.130_148dup
ENST00000600573.5:c.1193_1205+6dup
ENST00000600910.5:c.1189-89_1189-71dup	ENSP00000473137.1:n.1189-89_1189-71dup
ENST00000601816.3:n.185_203dup
ENST00000625216.2:c.367_379+6dup
ENST00000627232.2:c.1206_1218+6dup
ENST00000631020.2:c.1178_1190+6dup
NM_007254.3:c.1286_1298+6dup
NM_007254.4:c.1286_1298+6dup