Canonical Allele Identifier: CA633894447

Gene: PNKP

Linked Data

• dbSNP Id: rs1253041503
• gnomAD v2: 19-50364829-T-TGCAGCC
• gnomAD v3: 19-49861572-T-TGCAGCC
• gnomAD v4: 19-49861572-T-TGCAGCC
• MyVariant Identifiers: chr19:g.50364829_50364830insGCAGCC (hg19) ; chr19:g.49861572_49861573insGCAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861573_49861578dup , CM000681.2:g.49861573_49861578dup	GRCh38
NC_000019.9:g.50364830_50364835dup , CM000681.1:g.50364830_50364835dup	GRCh37
NC_000019.8:g.55056642_55056647dup	NCBI36
NG_027717.1:g.10988_10993dup
NG_050666.1:g.17730_17735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+30_1386+35dup MANE Select	ENSP00000323511.2:n.1386+30_1386+35dup
ENST00000636840.1:c.59+30_59+35dup
ENST00000322344.7:c.1386+30_1386+35dup	ENSP00000323511.2:n.1386+30_1386+35dup
ENST00000593946.5:c.*1313+30_*1313+35dup	ENSP00000468896.1:n.*1313+30_*1313+35dup
ENST00000594661.5:n.1887+30_1887+35dup
ENST00000595081.5:n.289+30_289+35dup
ENST00000596014.5:c.1386+30_1386+35dup	ENSP00000472300.1:n.1386+30_1386+35dup
ENST00000597965.2:c.93+30_93+35dup	ENSP00000471097.2:n.93+30_93+35dup
ENST00000599454.5:n.306+30_306+35dup
ENST00000600573.5:c.1293+30_1293+35dup	ENSP00000469826.1:n.1293+30_1293+35dup
ENST00000600910.5:c.1276+30_1276+35dup	ENSP00000473137.1:n.1276+30_1276+35dup
ENST00000601816.3:n.391_396dup
ENST00000625216.2:c.467+30_467+35dup	ENSP00000486898.1:n.467+30_467+35dup
ENST00000627232.2:c.1306+30_1306+35dup	ENSP00000486037.1:n.1306+30_1306+35dup
ENST00000631020.2:c.1278+30_1278+35dup	ENSP00000486707.1:n.1278+30_1278+35dup
NM_007254.3:c.1386+30_1386+35dup	NP_009185.2:n.1386+30_1386+35dup
NM_007254.4:c.1386+30_1386+35dup MANE Select	NP_009185.2:n.1386+30_1386+35dup