Canonical Allele Identifier: CA633894442

Gene: PNKP

Linked Data

• dbSNP Id: rs1491564683
• gnomAD v2: 19-50364823-A-AGGGGGTGCAGCCCG
• gnomAD v3: 19-49861566-A-AGGGGGTGCAGCCCG
• gnomAD v4: 19-49861566-A-AGGGGGTGCAGCCCG
• MyVariant Identifiers: chr19:g.50364824_50364825insGGGGTGCAGCCCGG (hg19) ; chr19:g.50364823_50364824insGGGGGTGCAGCCCG (hg19) ; chr19:g.49861566_49861567insGGGGGTGCAGCCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861574_49861587dup , CM000681.2:g.49861574_49861587dup	GRCh38
NC_000019.9:g.50364831_50364844dup , CM000681.1:g.50364831_50364844dup	GRCh37
NC_000019.8:g.55056643_55056656dup	NCBI36
NG_027717.1:g.10986_10999dup
NG_050666.1:g.17731_17744dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+28_1386+41dup MANE Select	ENSP00000323511.2:n.1386+28_1386+41dup
ENST00000636840.1:c.59+28_59+41dup
ENST00000322344.7:c.1386+28_1386+41dup	ENSP00000323511.2:n.1386+28_1386+41dup
ENST00000593946.5:c.*1313+28_*1313+41dup	ENSP00000468896.1:n.*1313+28_*1313+41dup
ENST00000594661.5:n.1887+28_1887+41dup
ENST00000595081.5:n.289+28_289+41dup
ENST00000596014.5:c.1386+28_1386+41dup	ENSP00000472300.1:n.1386+28_1386+41dup
ENST00000597965.2:c.93+28_93+41dup	ENSP00000471097.2:n.93+28_93+41dup
ENST00000599454.5:n.306+28_306+41dup
ENST00000600573.5:c.1293+28_1293+41dup	ENSP00000469826.1:n.1293+28_1293+41dup
ENST00000600910.5:c.1276+28_1276+41dup	ENSP00000473137.1:n.1276+28_1276+41dup
ENST00000601816.3:n.389_402dup
ENST00000625216.2:c.467+28_467+41dup	ENSP00000486898.1:n.467+28_467+41dup
ENST00000627232.2:c.1306+28_1306+41dup	ENSP00000486037.1:n.1306+28_1306+41dup
ENST00000631020.2:c.1278+28_1278+41dup	ENSP00000486707.1:n.1278+28_1278+41dup
NM_007254.3:c.1386+28_1386+41dup	NP_009185.2:n.1386+28_1386+41dup
NM_007254.4:c.1386+28_1386+41dup MANE Select	NP_009185.2:n.1386+28_1386+41dup