Canonical Allele Identifier: CA918571

Gene: NEXN

Linked Data

• ClinVar Variation Id: 626385
• ClinVar RCV Id: RCV000768796 ; RCV002536604
• dbSNP Id: rs765396527
• ExAC: 1:78383386 CAAAG / C
• gnomAD v2: 1-78383386-CAAAG-C
• gnomAD v4: 1-77917701-CAAAG-C
• MyVariant Identifiers: chr1:g.78383387_78383390del (hg19) ; chr1:g.77917702_77917705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77917704_77917707del , CM000663.2:g.77917704_77917707del	GRCh38
NC_000001.10:g.78383389_78383392del , CM000663.1:g.78383389_78383392del	GRCh37
NC_000001.9:g.78155977_78155980del	NCBI36
NG_016625.1:g.34190_34193del , LRG_442:g.34190_34193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.166_169del MANE Select	ENSP00000333938.7:p.Arg56GlufsTer?
ENST00000330010.12:c.28-256_28-253del	ENSP00000327363.8:n.28-256_28-253del
ENST00000334785.11:c.166_169del	ENSP00000333938.7:p.Arg56GlufsTer?
ENST00000401035.7:c.28-256_28-253del	ENSP00000383814.3:n.28-256_28-253del
ENST00000440324.5:c.166_169del	ENSP00000411902.1:p.Arg56GlufsTer?
NM_001172309.1:c.28-256_28-253del	NP_001165780.1:n.28-256_28-253del
NM_144573.3:c.166_169del , LRG_442t1:c.166_169del	NP_653174.3:p.Arg56GlufsTer?
XM_005271322.2:c.166_169del	XP_005271379.1:p.Arg56GlufsTer?
XM_005271323.2:c.166_169del	XP_005271380.1:p.Arg56GlufsTer?
XM_005271324.3:c.28-256_28-253del	XP_005271381.1:n.28-256_28-253del
XM_005271325.2:c.166_169del	XP_005271382.1:p.Arg56GlufsTer?
XM_005271326.2:c.28-256_28-253del	XP_005271383.1:n.28-256_28-253del
XM_005271327.2:c.166_169del	XP_005271384.1:p.Arg56GlufsTer?
XM_005271322.4:c.166_169del	XP_005271379.1:p.Arg56GlufsTer?
XM_005271323.4:c.166_169del	XP_005271380.1:p.Arg56GlufsTer?
XM_005271324.5:c.28-256_28-253del	XP_005271381.1:n.28-256_28-253del
XM_005271325.4:c.166_169del	XP_005271382.1:p.Arg56GlufsTer?
XM_005271326.4:c.28-256_28-253del	XP_005271383.1:n.28-256_28-253del
XM_005271327.4:c.166_169del	XP_005271384.1:p.Arg56GlufsTer?
NM_001172309.2:c.28-256_28-253del	NP_001165780.1:n.28-256_28-253del
NM_144573.4:c.166_169del MANE Select	NP_653174.3:p.Arg56GlufsTer?