Canonical Allele Identifier: CA9586481

Gene: PNKP

Linked Data

• dbSNP Id: rs752561267
• ExAC: 19:50365030 TGGCGCGGCTCGC / T
• gnomAD v4: 19-49861773-TGGCGCGGCTCGC-T
• MyVariant Identifiers: chr19:g.50365031_50365042del (hg19) ; chr19:g.49861774_49861785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861778_49861789del , CM000681.2:g.49861778_49861789del	GRCh38
NC_000019.9:g.50365035_50365046del , CM000681.1:g.50365035_50365046del	GRCh37
NC_000019.8:g.55056847_55056858del	NCBI36
NG_027717.1:g.10781_10792del
NG_050666.1:g.17935_17946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1285_1296del MANE Select	ENSP00000323511.2:p.Ala429_Ala432del
ENST00000322344.7:c.1285_1296del	ENSP00000323511.2:p.Ala429_Ala432del
ENST00000593946.5:c.*1212_*1223del	ENSP00000468896.1:n.*1212_*1223del
ENST00000594661.5:n.1786_1797del
ENST00000595081.5:n.112_123del
ENST00000596014.5:c.1285_1296del	ENSP00000472300.1:p.Ala429_Ala432del
ENST00000599454.5:n.129_140del
ENST00000600573.5:c.1192_1203del	ENSP00000469826.1:p.Ala398_Ala401del
ENST00000600910.5:c.1189-90_1189-79del	ENSP00000473137.1:n.1189-90_1189-79del
ENST00000601816.3:n.184_195del
ENST00000625216.2:c.366_377del	ENSP00000486898.1:n.366_377del
ENST00000627232.2:c.1205_1216del	ENSP00000486037.1:n.1205_1216del
ENST00000631020.2:c.1177_1188del	ENSP00000486707.1:p.Ala393_Ala396del
NM_007254.3:c.1285_1296del	NP_009185.2:p.Ala429_Ala432del
NM_007254.4:c.1285_1296del MANE Select	NP_009185.2:p.Ala429_Ala432del