Canonical Allele Identifier: CA142164

Gene: NEXN

Linked Data

• ClinVar Variation Id: 47909
• ClinVar RCV Id: RCV000041180
• dbSNP Id: rs397517859
• MyVariant Identifiers: chr1:g.78392286del (hg19) ; chr1:g.77926601del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77926601del , CM000663.2:g.77926601del	GRCh38
NC_000001.10:g.78392286del , CM000663.1:g.78392286del	GRCh37
NC_000001.9:g.78164874del	NCBI36
NG_016625.1:g.43087del , LRG_442:g.43087del

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.677del MANE Select	ENSP00000333938.7:p.Ser226TyrfsTer2
ENST00000330010.12:c.485del	ENSP00000327363.8:p.Ser162TyrfsTer2
ENST00000334785.11:c.677del	ENSP00000333938.7:p.Ser226TyrfsTer2
ENST00000342754.5:c.376del
ENST00000401035.7:c.485del	ENSP00000383814.3:p.Ser162TyrfsTer2
ENST00000440324.5:c.635del	ENSP00000411902.1:p.Ser212TyrfsTer2
ENST00000464998.1:n.33del
NM_001172309.1:c.485del	NP_001165780.1:p.Ser162TyrfsTer2
NM_144573.3:c.677del , LRG_442t1:c.677del	NP_653174.3:p.Ser226TyrfsTer2
XM_005271322.2:c.677del	XP_005271379.1:p.Ser226TyrfsTer2
XM_005271323.2:c.635del	XP_005271380.1:p.Ser212TyrfsTer2
XM_005271324.3:c.485del	XP_005271381.1:p.Ser162TyrfsTer2
XM_005271325.2:c.677del	XP_005271382.1:p.Ser226TyrfsTer2
XM_005271326.2:c.443del	XP_005271383.1:p.Ser148TyrfsTer2
XM_005271327.2:c.448-2715del	XP_005271384.1:n.448-2715del
XM_005271322.4:c.677del	XP_005271379.1:p.Ser226TyrfsTer2
XM_005271323.4:c.635del	XP_005271380.1:p.Ser212TyrfsTer2
XM_005271324.5:c.485del	XP_005271381.1:p.Ser162TyrfsTer2
XM_005271325.4:c.677del	XP_005271382.1:p.Ser226TyrfsTer2
XM_005271326.4:c.443del	XP_005271383.1:p.Ser148TyrfsTer2
XM_005271327.4:c.448-2715del	XP_005271384.1:n.448-2715del
NM_001172309.2:c.485del	NP_001165780.1:p.Ser162TyrfsTer2
NM_144573.4:c.677del MANE Select	NP_653174.3:p.Ser226TyrfsTer2