Canonical Allele Identifier: CA739076541

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1014582
• ClinVar RCV Id: RCV001313334 ; RCV003166785
• dbSNP Id: rs1435048653
• gnomAD v3: 1-77917702-AAAG-A
• gnomAD v4: 1-77917702-AAAG-A
• MyVariant Identifiers: chr1:g.78383388_78383390del (hg19) ; chr1:g.77917703_77917705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77917708_77917710del , CM000663.2:g.77917708_77917710del	GRCh38
NC_000001.10:g.78383393_78383395del , CM000663.1:g.78383393_78383395del	GRCh37
NC_000001.9:g.78155981_78155983del	NCBI36
NG_016625.1:g.34194_34196del , LRG_442:g.34194_34196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.170_172del MANE Select	ENSP00000333938.7:p.Arg57del
ENST00000330010.12:c.28-252_28-250del	ENSP00000327363.8:n.28-252_28-250del
ENST00000334785.11:c.170_172del	ENSP00000333938.7:p.Arg57del
ENST00000401035.7:c.28-252_28-250del	ENSP00000383814.3:n.28-252_28-250del
ENST00000440324.5:c.170_172del	ENSP00000411902.1:p.Arg57del
NM_001172309.1:c.28-252_28-250del	NP_001165780.1:n.28-252_28-250del
NM_144573.3:c.170_172del , LRG_442t1:c.170_172del	NP_653174.3:p.Arg57del
XM_005271322.2:c.170_172del	XP_005271379.1:p.Arg57del
XM_005271323.2:c.170_172del	XP_005271380.1:p.Arg57del
XM_005271324.3:c.28-252_28-250del	XP_005271381.1:n.28-252_28-250del
XM_005271325.2:c.170_172del	XP_005271382.1:p.Arg57del
XM_005271326.2:c.28-252_28-250del	XP_005271383.1:n.28-252_28-250del
XM_005271327.2:c.170_172del	XP_005271384.1:p.Arg57del
XM_005271322.4:c.170_172del	XP_005271379.1:p.Arg57del
XM_005271323.4:c.170_172del	XP_005271380.1:p.Arg57del
XM_005271324.5:c.28-252_28-250del	XP_005271381.1:n.28-252_28-250del
XM_005271325.4:c.170_172del	XP_005271382.1:p.Arg57del
XM_005271326.4:c.28-252_28-250del	XP_005271383.1:n.28-252_28-250del
XM_005271327.4:c.170_172del	XP_005271384.1:p.Arg57del
NM_001172309.2:c.28-252_28-250del	NP_001165780.1:n.28-252_28-250del
NM_144573.4:c.170_172del MANE Select	NP_653174.3:p.Arg57del