Canonical Allele Identifier: CA916079811

Gene: PNKP

Linked Data

• dbSNP Id: rs2074764017
• gnomAD v4: 19-49861673-CGGCTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861677_49861682del , CM000681.2:g.49861677_49861682del	GRCh38
NC_000019.9:g.50364934_50364939del , CM000681.1:g.50364934_50364939del	GRCh37
NC_000019.8:g.55056746_55056751del	NCBI36
NG_027717.1:g.10887_10892del
NG_050666.1:g.17834_17839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1315_1320del MANE Select	ENSP00000323511.2:p.Arg439_Ala440del
ENST00000322344.7:c.1315_1320del	ENSP00000323511.2:p.Arg439_Ala440del
ENST00000593946.5:c.*1242_*1247del	ENSP00000468896.1:n.*1242_*1247del
ENST00000594661.5:n.1816_1821del
ENST00000595081.5:n.218_223del
ENST00000596014.5:c.1315_1320del	ENSP00000472300.1:p.Arg439_Ala440del
ENST00000597965.2:c.22_27del	ENSP00000471097.2:p.Arg8_Ala9del
ENST00000599454.5:n.235_240del
ENST00000600573.5:c.1222_1227del	ENSP00000469826.1:p.Arg408_Ala409del
ENST00000600910.5:c.1205_1210del	ENSP00000473137.1:p.Pro402_Ser403del
ENST00000601816.3:n.290_295del
ENST00000625216.2:c.396_401del	ENSP00000486898.1:n.396_401del
ENST00000627232.2:c.1235_1240del	ENSP00000486037.1:n.1235_1240del
ENST00000631020.2:c.1207_1212del	ENSP00000486707.1:p.Arg403_Ala404del
NM_007254.3:c.1315_1320del	NP_009185.2:p.Arg439_Ala440del
NM_007254.4:c.1315_1320del MANE Select	NP_009185.2:p.Arg439_Ala440del