Canonical Allele Identifier: CA9586385

Gene: PNKP

Linked Data

• dbSNP Id: rs749923714
• ExAC: 19:50364751 TCC / T
• gnomAD v2: 19-50364751-TCC-T
• gnomAD v4: 19-49861494-TCC-T
• MyVariant Identifiers: chr19:g.50364752_50364753del (hg19) ; chr19:g.49861495_49861496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861495_49861496del , CM000681.2:g.49861495_49861496del	GRCh38
NC_000019.9:g.50364752_50364753del , CM000681.1:g.50364752_50364753del	GRCh37
NC_000019.8:g.55056564_55056565del	NCBI36
NG_027717.1:g.11070_11071del
NG_050666.1:g.17652_17653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1401_1402del MANE Select	ENSP00000323511.2:p.Asp468LeufsTer25
ENST00000636840.1:c.59+112_59+113del
ENST00000640501.1:c.7_8del
ENST00000322344.7:c.1401_1402del	ENSP00000323511.2:p.Asp468LeufsTer25
ENST00000593946.5:c.*1328_*1329del	ENSP00000468896.1:n.*1328_*1329del
ENST00000594661.5:n.1902_1903del
ENST00000595081.5:n.304_305del
ENST00000596014.5:c.1401_1402del	ENSP00000472300.1:p.Asp468LeufsTer25
ENST00000597965.2:c.108_109del	ENSP00000471097.2:p.Asp37LeufsTer?
ENST00000599454.5:n.321_322del
ENST00000600573.5:c.1308_1309del	ENSP00000469826.1:p.Asp437LeufsTer25
ENST00000600910.5:c.1291_1292del	ENSP00000473137.1:p.Gly431ThrfsTer?
ENST00000601816.3:n.473_474del
ENST00000625216.2:c.482_483del	ENSP00000486898.1:n.482_483del
ENST00000627232.2:c.1321_1322del	ENSP00000486037.1:n.1321_1322del
ENST00000631020.2:c.1293_1294del	ENSP00000486707.1:p.Asp432LeufsTer25
NM_007254.3:c.1401_1402del	NP_009185.2:p.Asp468LeufsTer25
NM_007254.4:c.1401_1402del MANE Select	NP_009185.2:p.Asp468LeufsTer25