Canonical Allele Identifier: CA2580063253
Gene: NEXN HGNC NCBI

Linked Data

ClinVar Variation Id: 2099026
ClinVar RCV Id: RCV003022797

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77942134_77942143del , CM000663.2:g.77942134_77942143del GRCh38
NC_000001.10:g.78407819_78407828del , CM000663.1:g.78407819_78407828del GRCh37
NC_000001.9:g.78180407_78180416del NCBI36
NG_016625.1:g.58620_58629del , LRG_442:g.58620_58629del
NG_033243.2:g.41959_41968del

Transcript Alleles

HGVS Amino-acid change
ENST00000334785.12:c.1585_1594del MANE Select ENSP00000333938.7:p.Gln529LeufsTer?
ENST00000330010.12:c.1393_1402del ENSP00000327363.8:p.Gln465LeufsTer?
ENST00000334785.11:c.1585_1594del ENSP00000333938.7:p.Gln529LeufsTer?
ENST00000342754.5:c.1284_1293del
ENST00000470735.1:n.424_433del
ENST00000480732.2:n.1159_1168del
NM_001172309.1:c.1393_1402del NP_001165780.1:p.Gln465LeufsTer?
NM_144573.3:c.1585_1594del , LRG_442t1:c.1585_1594del NP_653174.3:p.Gln529LeufsTer?
XM_005271322.2:c.1585_1594del XP_005271379.1:p.Gln529LeufsTer?
XM_005271323.2:c.1543_1552del XP_005271380.1:p.Gln515LeufsTer?
XM_005271324.3:c.1393_1402del XP_005271381.1:p.Gln465LeufsTer?
XM_005271325.2:c.1363_1372del XP_005271382.1:p.Gln455LeufsTer?
XM_005271326.2:c.1351_1360del XP_005271383.1:p.Gln451LeufsTer?
XM_005271327.2:c.1168_1177del XP_005271384.1:p.Gln390LeufsTer?
XM_005271322.4:c.1585_1594del XP_005271379.1:p.Gln529LeufsTer?
XM_005271323.4:c.1543_1552del XP_005271380.1:p.Gln515LeufsTer?
XM_005271324.5:c.1393_1402del XP_005271381.1:p.Gln465LeufsTer?
XM_005271325.4:c.1363_1372del XP_005271382.1:p.Gln455LeufsTer?
XM_005271326.4:c.1351_1360del XP_005271383.1:p.Gln451LeufsTer?
XM_005271327.4:c.1168_1177del XP_005271384.1:p.Gln390LeufsTer?
NM_001172309.2:c.1393_1402del NP_001165780.1:p.Gln465LeufsTer?
NM_144573.4:c.1585_1594del MANE Select NP_653174.3:p.Gln529LeufsTer?