Canonical Allele Identifier: CA2580063252
Gene: NEXN HGNC NCBI

Linked Data

ClinVar Variation Id: 2127868
ClinVar RCV Id: RCV003036060

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77942084_77942086dup , CM000663.2:g.77942084_77942086dup GRCh38
NC_000001.10:g.78407769_78407771dup , CM000663.1:g.78407769_78407771dup GRCh37
NC_000001.9:g.78180357_78180359dup NCBI36
NG_016625.1:g.58570_58572dup , LRG_442:g.58570_58572dup
NG_033243.2:g.42009_42011dup

Transcript Alleles

HGVS Amino-acid change
ENST00000334785.12:c.1535_1537dup MANE Select ENSP00000333938.7:p.Asn512_Met513insAsn
ENST00000330010.12:c.1343_1345dup ENSP00000327363.8:p.Asn448_Met449insAsn
ENST00000334785.11:c.1535_1537dup ENSP00000333938.7:p.Asn512_Met513insAsn
ENST00000342754.5:c.1234_1236dup
ENST00000470735.1:n.374_376dup
ENST00000480732.2:n.1109_1111dup
NM_001172309.1:c.1343_1345dup NP_001165780.1:p.Asn448_Met449insAsn
NM_144573.3:c.1535_1537dup , LRG_442t1:c.1535_1537dup NP_653174.3:p.Asn512_Met513insAsn
XM_005271322.2:c.1535_1537dup XP_005271379.1:p.Asn512_Met513insAsn
XM_005271323.2:c.1493_1495dup XP_005271380.1:p.Asn498_Met499insAsn
XM_005271324.3:c.1343_1345dup XP_005271381.1:p.Asn448_Met449insAsn
XM_005271325.2:c.1313_1315dup XP_005271382.1:p.Asn438_Met439insAsn
XM_005271326.2:c.1301_1303dup XP_005271383.1:p.Asn434_Met435insAsn
XM_005271327.2:c.1118_1120dup XP_005271384.1:p.Asn373_Met374insAsn
XM_005271322.4:c.1535_1537dup XP_005271379.1:p.Asn512_Met513insAsn
XM_005271323.4:c.1493_1495dup XP_005271380.1:p.Asn498_Met499insAsn
XM_005271324.5:c.1343_1345dup XP_005271381.1:p.Asn448_Met449insAsn
XM_005271325.4:c.1313_1315dup XP_005271382.1:p.Asn438_Met439insAsn
XM_005271326.4:c.1301_1303dup XP_005271383.1:p.Asn434_Met435insAsn
XM_005271327.4:c.1118_1120dup XP_005271384.1:p.Asn373_Met374insAsn
NM_001172309.2:c.1343_1345dup NP_001165780.1:p.Asn448_Met449insAsn
NM_144573.4:c.1535_1537dup MANE Select NP_653174.3:p.Asn512_Met513insAsn