Canonical Allele Identifier: CA633895256
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 1801056
ClinVar RCV Id: RCV002462653
dbSNP Id: rs1462821802
gnomAD v2: 19-50365299-AC-A
gnomAD v3: 19-49862042-AC-A
gnomAD v4: 19-49862042-AC-A
MyVariant Identifiers: chr19:g.50365300del (hg19) chr19:g.49862043del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49862045del , CM000681.2:g.49862045del GRCh38
NC_000019.9:g.50365302del , CM000681.1:g.50365302del GRCh37
NC_000019.8:g.55057114del NCBI36
NG_027717.1:g.10523del
NG_050666.1:g.18202del

Transcript Alleles

HGVS Amino-acid change
ENST00000322344.8:c.1188+1del
ENST00000322344.7:c.1188+1del
ENST00000593706.3:n.623del
ENST00000593946.5:c.*1115+1del
ENST00000594661.5:n.1689+1del
ENST00000596014.5:c.1188+1del
ENST00000599454.5:n.32+1del
ENST00000600573.5:c.1095+1del
ENST00000600910.5:c.1188+1del
ENST00000601816.3:n.87+1del
ENST00000625216.2:c.269+1del
ENST00000627232.2:c.1108+1del
ENST00000631020.2:c.1080+1del
NM_007254.3:c.1188+1del
NM_007254.4:c.1188+1del
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