Canonical Allele Identifier: CA184438

Gene: NEXN

Linked Data

• ClinVar Variation Id: 179449
• ClinVar RCV Id: RCV000156238
• dbSNP Id: rs727504874
• MyVariant Identifiers: chr1:g.78399094_78399095del (hg19) ; chr1:g.77933409_77933410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77933409_77933410del , CM000663.2:g.77933409_77933410del	GRCh38
NC_000001.10:g.78399094_78399095del , CM000663.1:g.78399094_78399095del	GRCh37
NC_000001.9:g.78171682_78171683del	NCBI36
NG_016625.1:g.49895_49896del , LRG_442:g.49895_49896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1181_1182del MANE Select	ENSP00000333938.7:p.Glu394GlyfsTer6
ENST00000330010.12:c.989_990del	ENSP00000327363.8:p.Glu330GlyfsTer6
ENST00000334785.11:c.1181_1182del	ENSP00000333938.7:p.Glu394GlyfsTer6
ENST00000342754.5:c.880_881del
ENST00000440324.5:c.1139_1140del	ENSP00000411902.1:p.Glu380GlyfsTer6
ENST00000464998.1:n.641_642del
ENST00000480732.2:n.755_756del
NM_001172309.1:c.989_990del	NP_001165780.1:p.Glu330GlyfsTer6
NM_144573.3:c.1181_1182del , LRG_442t1:c.1181_1182del	NP_653174.3:p.Glu394GlyfsTer6
XM_005271322.2:c.1181_1182del	XP_005271379.1:p.Glu394GlyfsTer6
XM_005271323.2:c.1139_1140del	XP_005271380.1:p.Glu380GlyfsTer6
XM_005271324.3:c.989_990del	XP_005271381.1:p.Glu330GlyfsTer6
XM_005271325.2:c.1181_1182del	XP_005271382.1:p.Glu394GlyfsTer6
XM_005271326.2:c.947_948del	XP_005271383.1:p.Glu316GlyfsTer6
XM_005271327.2:c.764_765del	XP_005271384.1:p.Glu255GlyfsTer6
XM_005271322.4:c.1181_1182del	XP_005271379.1:p.Glu394GlyfsTer6
XM_005271323.4:c.1139_1140del	XP_005271380.1:p.Glu380GlyfsTer6
XM_005271324.5:c.989_990del	XP_005271381.1:p.Glu330GlyfsTer6
XM_005271325.4:c.1181_1182del	XP_005271382.1:p.Glu394GlyfsTer6
XM_005271326.4:c.947_948del	XP_005271383.1:p.Glu316GlyfsTer6
XM_005271327.4:c.764_765del	XP_005271384.1:p.Glu255GlyfsTer6
NM_001172309.2:c.989_990del	NP_001165780.1:p.Glu330GlyfsTer6
NM_144573.4:c.1181_1182del MANE Select	NP_653174.3:p.Glu394GlyfsTer6