Canonical Allele Identifier: CA2340622019

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861473_49861475delinsGAC , CM000681.2:g.49861473_49861475delinsGAC	GRCh38
NC_000019.9:g.50364730_50364732delinsGAC , CM000681.1:g.50364730_50364732delinsGAC	GRCh37
NC_000019.8:g.55056542_55056544delinsGAC	NCBI36
NG_027717.1:g.11091_11093delinsGTC
NG_050666.1:g.17630_17632delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1422_1424delinsGTC MANE Select	ENSP00000323511.2:p.Val474=
ENST00000636840.1:c.59+133_59+135delinsGTC
ENST00000640501.1:c.28_30delinsGTC
ENST00000322344.7:c.1422_1424delinsGTC	ENSP00000323511.2:p.Val474=
ENST00000593946.5:c.*1349_*1351delinsGTC	ENSP00000468896.1:n.*1349_*1351delinsGTC
ENST00000594661.5:n.1923_1925delinsGTC
ENST00000595081.5:n.325_327delinsGTC
ENST00000596014.5:c.1422_1424delinsGTC	ENSP00000472300.1:p.Val474=
ENST00000597965.2:c.129_131delinsGTC	ENSP00000471097.2:p.Val43=
ENST00000599454.5:n.342_344delinsGTC
ENST00000600573.5:c.1329_1331delinsGTC	ENSP00000469826.1:p.Val443=
ENST00000600910.5:c.1312_1314delinsGTC	ENSP00000473137.1:p.Val438=
ENST00000601816.3:n.494_496delinsGTC
ENST00000625216.2:c.503_505delinsGTC	ENSP00000486898.1:n.503_505delinsGTC
ENST00000627232.2:c.1342_1344delinsGTC	ENSP00000486037.1:n.1342_1344delinsGTC
ENST00000631020.2:c.1314_1316delinsGTC	ENSP00000486707.1:p.Val438=
NM_007254.3:c.1422_1424delinsGTC	NP_009185.2:p.Val474=
NM_007254.4:c.1422_1424delinsGTC MANE Select	NP_009185.2:p.Val474=