Canonical Allele Identifier: CA2340622218

Gene: PNKP

Linked Data

• dbSNP Id: rs2074764017

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861677_49861682dup , CM000681.2:g.49861677_49861682dup	GRCh38
NC_000019.9:g.50364934_50364939dup , CM000681.1:g.50364934_50364939dup	GRCh37
NC_000019.8:g.55056746_55056751dup	NCBI36
NG_027717.1:g.10887_10892dup
NG_050666.1:g.17834_17839dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1315_1320dup MANE Select	ENSP00000323511.2:p.Ala440_Ala441insArgAla
ENST00000322344.7:c.1315_1320dup	ENSP00000323511.2:p.Ala440_Ala441insArgAla
ENST00000593946.5:c.*1242_*1247dup	ENSP00000468896.1:n.*1242_*1247dup
ENST00000594661.5:n.1816_1821dup
ENST00000595081.5:n.218_223dup
ENST00000596014.5:c.1315_1320dup	ENSP00000472300.1:p.Ala440_Ala441insArgAla
ENST00000597965.2:c.22_27dup	ENSP00000471097.2:p.Ala9_Ala10insArgAla
ENST00000599454.5:n.235_240dup
ENST00000600573.5:c.1222_1227dup	ENSP00000469826.1:p.Ala409_Ala410insArgAla
ENST00000600910.5:c.1205_1210dup	ENSP00000473137.1:p.Ser403_Arg404insProSer
ENST00000601816.3:n.290_295dup
ENST00000625216.2:c.396_401dup	ENSP00000486898.1:n.396_401dup
ENST00000627232.2:c.1235_1240dup	ENSP00000486037.1:n.1235_1240dup
ENST00000631020.2:c.1207_1212dup	ENSP00000486707.1:p.Ala404_Ala405insArgAla
NM_007254.3:c.1315_1320dup	NP_009185.2:p.Ala440_Ala441insArgAla
NM_007254.4:c.1315_1320dup MANE Select	NP_009185.2:p.Ala440_Ala441insArgAla