Canonical Allele Identifier: CA2580063267
Gene: NEXN HGNC NCBI

Linked Data

ClinVar Variation Id: 1771923
ClinVar RCV Id: RCV002389400

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77935978delinsGC , CM000663.2:g.77935978delinsGC GRCh38
NC_000001.10:g.78401663delinsGC , CM000663.1:g.78401663delinsGC GRCh37
NC_000001.9:g.78174251delinsGC NCBI36
NG_016625.1:g.52464delinsGC , LRG_442:g.52464delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000334785.12:c.1407delinsGC MANE Select ENSP00000333938.7:p.Glu470ArgfsTer9
ENST00000330010.12:c.1215delinsGC ENSP00000327363.8:p.Glu406ArgfsTer9
ENST00000334785.11:c.1407delinsGC ENSP00000333938.7:p.Glu470ArgfsTer9
ENST00000342754.5:c.1106delinsGC
ENST00000480732.2:n.981delinsGC
NM_001172309.1:c.1215delinsGC NP_001165780.1:p.Glu406ArgfsTer9
NM_144573.3:c.1407delinsGC , LRG_442t1:c.1407delinsGC NP_653174.3:p.Glu470ArgfsTer9
XM_005271322.2:c.1407delinsGC XP_005271379.1:p.Glu470ArgfsTer9
XM_005271323.2:c.1365delinsGC XP_005271380.1:p.Glu456ArgfsTer9
XM_005271324.3:c.1215delinsGC XP_005271381.1:p.Glu406ArgfsTer9
XM_005271325.2:c.1251+2499delinsGC XP_005271382.1:n.1251+2499delinsGC
XM_005271326.2:c.1173delinsGC XP_005271383.1:p.Glu392ArgfsTer9
XM_005271327.2:c.990delinsGC XP_005271384.1:p.Glu331ArgfsTer9
XM_005271322.4:c.1407delinsGC XP_005271379.1:p.Glu470ArgfsTer9
XM_005271323.4:c.1365delinsGC XP_005271380.1:p.Glu456ArgfsTer9
XM_005271324.5:c.1215delinsGC XP_005271381.1:p.Glu406ArgfsTer9
XM_005271325.4:c.1251+2499delinsGC XP_005271382.1:n.1251+2499delinsGC
XM_005271326.4:c.1173delinsGC XP_005271383.1:p.Glu392ArgfsTer9
XM_005271327.4:c.990delinsGC XP_005271384.1:p.Glu331ArgfsTer9
NM_001172309.2:c.1215delinsGC NP_001165780.1:p.Glu406ArgfsTer9
NM_144573.4:c.1407delinsGC MANE Select NP_653174.3:p.Glu470ArgfsTer9