Canonical Allele Identifier: CA918932

Gene: NEXN

Linked Data

• ClinVar Variation Id: 283614
• ClinVar RCV Id: RCV000301273 ; RCV000725298 ; RCV001254746 ; RCV002480013
• dbSNP Id: rs779350415
• ExAC: 1:78407843 T / TA
• gnomAD v2: 1-78407843-T-TA
• gnomAD v3: 1-77942158-T-TA
• gnomAD v4: 1-77942158-T-TA
• MyVariant Identifiers: chr1:g.78407843_78407844insA (hg19) ; chr1:g.77942158_77942159insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942158_77942159insA , CM000663.2:g.77942158_77942159insA	GRCh38
NC_000001.10:g.78407843_78407844insA , CM000663.1:g.78407843_78407844insA	GRCh37
NC_000001.9:g.78180431_78180432insA	NCBI36
NG_016625.1:g.58644_58645insA , LRG_442:g.58644_58645insA
NG_033243.2:g.41935_41936insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1609_1610insA MANE Select	ENSP00000333938.7:p.Leu537TyrfsTer7
ENST00000330010.12:c.1417_1418insA	ENSP00000327363.8:p.Leu473TyrfsTer7
ENST00000334785.11:c.1609_1610insA	ENSP00000333938.7:p.Leu537TyrfsTer7
ENST00000342754.5:c.1308_1309insA
ENST00000470735.1:n.448_449insA
ENST00000480732.2:n.1183_1184insA
NM_001172309.1:c.1417_1418insA	NP_001165780.1:p.Leu473TyrfsTer7
NM_144573.3:c.1609_1610insA , LRG_442t1:c.1609_1610insA	NP_653174.3:p.Leu537TyrfsTer7
XM_005271322.2:c.1609_1610insA	XP_005271379.1:p.Leu537TyrfsTer7
XM_005271323.2:c.1567_1568insA	XP_005271380.1:p.Leu523TyrfsTer7
XM_005271324.3:c.1417_1418insA	XP_005271381.1:p.Leu473TyrfsTer7
XM_005271325.2:c.1387_1388insA	XP_005271382.1:p.Leu463TyrfsTer7
XM_005271326.2:c.1375_1376insA	XP_005271383.1:p.Leu459TyrfsTer7
XM_005271327.2:c.1192_1193insA	XP_005271384.1:p.Leu398TyrfsTer7
XM_005271322.4:c.1609_1610insA	XP_005271379.1:p.Leu537TyrfsTer7
XM_005271323.4:c.1567_1568insA	XP_005271380.1:p.Leu523TyrfsTer7
XM_005271324.5:c.1417_1418insA	XP_005271381.1:p.Leu473TyrfsTer7
XM_005271325.4:c.1387_1388insA	XP_005271382.1:p.Leu463TyrfsTer7
XM_005271326.4:c.1375_1376insA	XP_005271383.1:p.Leu459TyrfsTer7
XM_005271327.4:c.1192_1193insA	XP_005271384.1:p.Leu398TyrfsTer7
NM_001172309.2:c.1417_1418insA	NP_001165780.1:p.Leu473TyrfsTer7
NM_144573.4:c.1609_1610insA MANE Select	NP_653174.3:p.Leu537TyrfsTer7