Canonical Allele Identifier: CA2499225548

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1298782
• ClinVar RCV Id: RCV001727112
• dbSNP Id: rs2122317908
• gnomAD v4: 19-49861548-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861549del , CM000681.2:g.49861549del	GRCh38
NC_000019.9:g.50364806del , CM000681.1:g.50364806del	GRCh37
NC_000019.8:g.55056618del	NCBI36
NG_027717.1:g.11017del
NG_050666.1:g.17706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-39del MANE Select	ENSP00000323511.2:n.1387-39del
ENST00000636840.1:c.59+59del
ENST00000322344.7:c.1387-39del	ENSP00000323511.2:n.1387-39del
ENST00000593946.5:c.*1314-39del	ENSP00000468896.1:n.*1314-39del
ENST00000594661.5:n.1888-39del
ENST00000595081.5:n.290-39del
ENST00000596014.5:c.1387-39del	ENSP00000472300.1:n.1387-39del
ENST00000597965.2:c.94-39del	ENSP00000471097.2:n.94-39del
ENST00000599454.5:n.307-39del
ENST00000600573.5:c.1294-39del	ENSP00000469826.1:n.1294-39del
ENST00000600910.5:c.1277-39del	ENSP00000473137.1:n.1277-39del
ENST00000601816.3:n.420del
ENST00000625216.2:c.468-39del	ENSP00000486898.1:n.468-39del
ENST00000627232.2:c.1307-39del	ENSP00000486037.1:n.1307-39del
ENST00000631020.2:c.1279-39del	ENSP00000486707.1:n.1279-39del
NM_007254.3:c.1387-39del	NP_009185.2:n.1387-39del
NM_007254.4:c.1387-39del MANE Select	NP_009185.2:n.1387-39del