Canonical Allele Identifier: CA524231073

Gene: NEXN

Linked Data

• dbSNP Id: rs1177175148
• gnomAD v2: 1-78407822-AGAAGAATT-A
• gnomAD v4: 1-77942137-AGAAGAATT-A
• MyVariant Identifiers: chr1:g.78407823_78407830del (hg19) ; chr1:g.77942138_77942145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942144_77942151del , CM000663.2:g.77942144_77942151del	GRCh38
NC_000001.10:g.78407829_78407836del , CM000663.1:g.78407829_78407836del	GRCh37
NC_000001.9:g.78180417_78180424del	NCBI36
NG_016625.1:g.58630_58637del , LRG_442:g.58630_58637del
NG_033243.2:g.41949_41956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1595_1602del MANE Select	ENSP00000333938.7:p.Ile532ThrfsTer9
ENST00000330010.12:c.1403_1410del	ENSP00000327363.8:p.Ile468ThrfsTer9
ENST00000334785.11:c.1595_1602del	ENSP00000333938.7:p.Ile532ThrfsTer9
ENST00000342754.5:c.1294_1301del
ENST00000470735.1:n.434_441del
ENST00000480732.2:n.1169_1176del
NM_001172309.1:c.1403_1410del	NP_001165780.1:p.Ile468ThrfsTer9
NM_144573.3:c.1595_1602del , LRG_442t1:c.1595_1602del	NP_653174.3:p.Ile532ThrfsTer9
XM_005271322.2:c.1595_1602del	XP_005271379.1:p.Ile532ThrfsTer9
XM_005271323.2:c.1553_1560del	XP_005271380.1:p.Ile518ThrfsTer9
XM_005271324.3:c.1403_1410del	XP_005271381.1:p.Ile468ThrfsTer9
XM_005271325.2:c.1373_1380del	XP_005271382.1:p.Ile458ThrfsTer9
XM_005271326.2:c.1361_1368del	XP_005271383.1:p.Ile454ThrfsTer9
XM_005271327.2:c.1178_1185del	XP_005271384.1:p.Ile393ThrfsTer9
XM_005271322.4:c.1595_1602del	XP_005271379.1:p.Ile532ThrfsTer9
XM_005271323.4:c.1553_1560del	XP_005271380.1:p.Ile518ThrfsTer9
XM_005271324.5:c.1403_1410del	XP_005271381.1:p.Ile468ThrfsTer9
XM_005271325.4:c.1373_1380del	XP_005271382.1:p.Ile458ThrfsTer9
XM_005271326.4:c.1361_1368del	XP_005271383.1:p.Ile454ThrfsTer9
XM_005271327.4:c.1178_1185del	XP_005271384.1:p.Ile393ThrfsTer9
NM_001172309.2:c.1403_1410del	NP_001165780.1:p.Ile468ThrfsTer9
NM_144573.4:c.1595_1602del MANE Select	NP_653174.3:p.Ile532ThrfsTer9