Canonical Allele Identifier: CA2340622070

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861526_49861565delinsGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTC , CM000681.2:g.49861526_49861565delinsGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTC	GRCh38
NC_000019.9:g.50364783_50364822delinsGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTC , CM000681.1:g.50364783_50364822delinsGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTC	GRCh37
NC_000019.8:g.55056595_55056634delinsGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTC	NCBI36
NG_027717.1:g.11001_11040delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC
NG_050666.1:g.17683_17722delinsGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC MANE Select	ENSP00000323511.2:n.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGAC...
ENST00000636840.1:c.59+43_59+82delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC
ENST00000322344.7:c.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	ENSP00000323511.2:n.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGAC...
ENST00000593946.5:c.*1313+43_*1314-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	ENSP00000468896.1:n.*1313+43_*1314-16delinsGACCCCCCTCCTCCCCTG...
ENST00000594661.5:n.1887+43_1888-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC
ENST00000595081.5:n.289+43_290-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC
ENST00000596014.5:c.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	ENSP00000472300.1:n.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGAC...
ENST00000597965.2:c.93+43_94-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	ENSP00000471097.2:n.93+43_94-16delinsGACCCCCCTCCTCCCCTGACCCCT...
ENST00000599454.5:n.306+43_307-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC
ENST00000600573.5:c.1293+43_1294-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	ENSP00000469826.1:n.1293+43_1294-16delinsGACCCCCCTCCTCCCCTGAC...
ENST00000600910.5:c.1276+43_1277-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	ENSP00000473137.1:n.1276+43_1277-16delinsGACCCCCCTCCTCCCCTGAC...
ENST00000601816.3:n.404_443delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC
ENST00000625216.2:c.467+43_468-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	ENSP00000486898.1:n.467+43_468-16delinsGACCCCCCTCCTCCCCTGACCC...
ENST00000627232.2:c.1306+43_1307-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	ENSP00000486037.1:n.1306+43_1307-16delinsGACCCCCCTCCTCCCCTGAC...
ENST00000631020.2:c.1278+43_1279-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	ENSP00000486707.1:n.1278+43_1279-16delinsGACCCCCCTCCTCCCCTGAC...
NM_007254.3:c.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC	NP_009185.2:n.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGACCCCTGG...
NM_007254.4:c.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGACCCCTGGGCCTGCCGCCCCTC MANE Select	NP_009185.2:n.1386+43_1387-16delinsGACCCCCCTCCTCCCCTGACCCCTGG...