Canonical Allele Identifier: CA9586395

Gene: PNKP

Linked Data

• dbSNP Id: rs1568658311
• ExAC: 19:50364774 G / GCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGA
• MyVariant Identifiers: chr19:g.50364774_50364775insCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861517_49861518insCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGA , CM000681.2:g.49861517_49861518insCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGA	GRCh38
NC_000019.9:g.50364774_50364775insCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGA , CM000681.1:g.50364774_50364775insCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGA	GRCh37
NC_000019.8:g.55056586_55056587insCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGA	NCBI36
NG_027717.1:g.11048_11049insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG
NG_050666.1:g.17674_17675insCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG MANE Select	ENSP00000323511.2:n.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGC...
ENST00000636840.1:c.59+90_59+91insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG
ENST00000322344.7:c.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	ENSP00000323511.2:n.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGC...
ENST00000593946.5:c.*1314-8_*1314-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	ENSP00000468896.1:n.*1314-8_*1314-7insTCCTTGAGCTTGGCCGGCATTTT...
ENST00000594661.5:n.1888-8_1888-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG
ENST00000595081.5:n.290-8_290-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG
ENST00000596014.5:c.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	ENSP00000472300.1:n.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGC...
ENST00000597965.2:c.94-8_94-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	ENSP00000471097.2:n.94-8_94-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGA...
ENST00000599454.5:n.307-8_307-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG
ENST00000600573.5:c.1294-8_1294-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	ENSP00000469826.1:n.1294-8_1294-7insTCCTTGAGCTTGGCCGGCATTTTGC...
ENST00000600910.5:c.1277-8_1277-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	ENSP00000473137.1:n.1277-8_1277-7insTCCTTGAGCTTGGCCGGCATTTTGC...
ENST00000601816.3:n.451_452insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG
ENST00000625216.2:c.468-8_468-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	ENSP00000486898.1:n.468-8_468-7insTCCTTGAGCTTGGCCGGCATTTTGCTG...
ENST00000627232.2:c.1307-8_1307-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	ENSP00000486037.1:n.1307-8_1307-7insTCCTTGAGCTTGGCCGGCATTTTGC...
ENST00000631020.2:c.1279-8_1279-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	ENSP00000486707.1:n.1279-8_1279-7insTCCTTGAGCTTGGCCGGCATTTTGC...
NM_007254.3:c.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG	NP_009185.2:n.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAG...
NM_007254.4:c.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAGGAGGGTGGTCCCCACGGGGGAG MANE Select	NP_009185.2:n.1387-8_1387-7insTCCTTGAGCTTGGCCGGCATTTTGCTGGAAG...