Canonical Allele Identifier: CA633894418

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1635844
• ClinVar RCV Id: RCV002125819
• dbSNP Id: rs1238643725
• gnomAD v2: 19-50364771-T-TG
• gnomAD v3: 19-49861514-T-TG
• gnomAD v4: 19-49861514-T-TG
• MyVariant Identifiers: chr19:g.50364771_50364772insG (hg19) ; chr19:g.49861514_49861515insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861518dup , CM000681.2:g.49861518dup	GRCh38
NC_000019.9:g.50364775dup , CM000681.1:g.50364775dup	GRCh37
NC_000019.8:g.55056587dup	NCBI36
NG_027717.1:g.11051dup
NG_050666.1:g.17675dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-5dup MANE Select	ENSP00000323511.2:n.1387-5dup
ENST00000636840.1:c.59+93dup
ENST00000322344.7:c.1387-5dup	ENSP00000323511.2:n.1387-5dup
ENST00000593946.5:c.*1314-5dup	ENSP00000468896.1:n.*1314-5dup
ENST00000594661.5:n.1888-5dup
ENST00000595081.5:n.290-5dup
ENST00000596014.5:c.1387-5dup	ENSP00000472300.1:n.1387-5dup
ENST00000597965.2:c.94-5dup	ENSP00000471097.2:n.94-5dup
ENST00000599454.5:n.307-5dup
ENST00000600573.5:c.1294-5dup	ENSP00000469826.1:n.1294-5dup
ENST00000600910.5:c.1277-5dup	ENSP00000473137.1:n.1277-5dup
ENST00000601816.3:n.454dup
ENST00000625216.2:c.468-5dup	ENSP00000486898.1:n.468-5dup
ENST00000627232.2:c.1307-5dup	ENSP00000486037.1:n.1307-5dup
ENST00000631020.2:c.1279-5dup	ENSP00000486707.1:n.1279-5dup
NM_007254.3:c.1387-5dup	NP_009185.2:n.1387-5dup
NM_007254.4:c.1387-5dup MANE Select	NP_009185.2:n.1387-5dup