Canonical Allele Identifier: CA2340622083

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861537_49861575delinsGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCA , CM000681.2:g.49861537_49861575delinsGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCA	GRCh38
NC_000019.9:g.50364794_50364832delinsGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCA , CM000681.1:g.50364794_50364832delinsGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCA	GRCh37
NC_000019.8:g.55056606_55056644delinsGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCA	NCBI36
NG_027717.1:g.10991_11029delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC
NG_050666.1:g.17694_17732delinsGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC MANE Select	ENSP00000323511.2:n.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTC...
ENST00000636840.1:c.59+33_59+71delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC
ENST00000322344.7:c.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	ENSP00000323511.2:n.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTC...
ENST00000593946.5:c.*1313+33_*1314-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	ENSP00000468896.1:n.*1313+33_*1314-27delinsTGCACCCCCTGACCCCCC...
ENST00000594661.5:n.1887+33_1888-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC
ENST00000595081.5:n.289+33_290-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC
ENST00000596014.5:c.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	ENSP00000472300.1:n.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTC...
ENST00000597965.2:c.93+33_94-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	ENSP00000471097.2:n.93+33_94-27delinsTGCACCCCCTGACCCCCCTCCTCC...
ENST00000599454.5:n.306+33_307-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC
ENST00000600573.5:c.1293+33_1294-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	ENSP00000469826.1:n.1293+33_1294-27delinsTGCACCCCCTGACCCCCCTC...
ENST00000600910.5:c.1276+33_1277-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	ENSP00000473137.1:n.1276+33_1277-27delinsTGCACCCCCTGACCCCCCTC...
ENST00000601816.3:n.394_432delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC
ENST00000625216.2:c.467+33_468-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	ENSP00000486898.1:n.467+33_468-27delinsTGCACCCCCTGACCCCCCTCCT...
ENST00000627232.2:c.1306+33_1307-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	ENSP00000486037.1:n.1306+33_1307-27delinsTGCACCCCCTGACCCCCCTC...
ENST00000631020.2:c.1278+33_1279-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	ENSP00000486707.1:n.1278+33_1279-27delinsTGCACCCCCTGACCCCCCTC...
NM_007254.3:c.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC	NP_009185.2:n.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTCCTCCCC...
NM_007254.4:c.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTCCTCCCCTGACCCCTGGGCC MANE Select	NP_009185.2:n.1386+33_1387-27delinsTGCACCCCCTGACCCCCCTCCTCCCC...