Canonical Allele Identifier: CA2573054812

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1324941
• ClinVar RCV Id: RCV001782661
• dbSNP Id: rs2122317324

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861496_49861499del , CM000681.2:g.49861496_49861499del	GRCh38
NC_000019.9:g.50364753_50364756del , CM000681.1:g.50364753_50364756del	GRCh37
NC_000019.8:g.55056565_55056568del	NCBI36
NG_027717.1:g.11070_11073del
NG_050666.1:g.17653_17656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1401_1404del MANE Select	ENSP00000323511.2:p.Asp468ProfsTer?
ENST00000636840.1:c.59+112_59+115del
ENST00000640501.1:c.7_10del
ENST00000322344.7:c.1401_1404del	ENSP00000323511.2:p.Asp468ProfsTer?
ENST00000593946.5:c.*1328_*1331del	ENSP00000468896.1:n.*1328_*1331del
ENST00000594661.5:n.1902_1905del
ENST00000595081.5:n.304_307del
ENST00000596014.5:c.1401_1404del	ENSP00000472300.1:p.Asp468ProfsTer?
ENST00000597965.2:c.108_111del	ENSP00000471097.2:p.Asp37ProfsTer?
ENST00000599454.5:n.321_324del
ENST00000600573.5:c.1308_1311del	ENSP00000469826.1:p.Asp437ProfsTer?
ENST00000600910.5:c.1291_1294del	ENSP00000473137.1:p.Gly431SerfsTer?
ENST00000601816.3:n.473_476del
ENST00000625216.2:c.482_485del	ENSP00000486898.1:n.482_485del
ENST00000627232.2:c.1321_1324del	ENSP00000486037.1:n.1321_1324del
ENST00000631020.2:c.1293_1296del	ENSP00000486707.1:p.Asp432ProfsTer?
NM_007254.3:c.1401_1404del	NP_009185.2:p.Asp468ProfsTer?
NM_007254.4:c.1401_1404del MANE Select	NP_009185.2:p.Asp468ProfsTer?