Canonical Allele Identifier: CA335456

Gene: NEXN

Linked Data

• ClinVar Variation Id: 201940
• ClinVar RCV Id: RCV000183679 ; RCV000249380 ; RCV000458753 ; RCV001704886 ; RCV000845464 ; RCV001170730
• dbSNP Id: rs794729091
• ExAC: 1:78401671 CAAG / C
• gnomAD v2: 1-78401671-CAAG-C
• gnomAD v3: 1-77935986-CAAG-C
• gnomAD v4: 1-77935986-CAAG-C
• MyVariant Identifiers: chr1:g.78401675_78401677del (hg19) ; chr1:g.78401672_78401674del (hg19) ; chr1:g.77935990_77935992del (hg38) ; chr1:g.77935988_77935990del (hg38) ; chr1:g.77935987_77935989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935990_77935992del , CM000663.2:g.77935990_77935992del	GRCh38
NC_000001.10:g.78401675_78401677del , CM000663.1:g.78401675_78401677del	GRCh37
NC_000001.9:g.78174263_78174265del	NCBI36
NG_016625.1:g.52476_52478del , LRG_442:g.52476_52478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1419_1421del MANE Select	ENSP00000333938.7:p.Arg474del
ENST00000330010.12:c.1227_1229del	ENSP00000327363.8:p.Arg410del
ENST00000334785.11:c.1419_1421del	ENSP00000333938.7:p.Arg474del
ENST00000342754.5:c.1118_1120del
ENST00000480732.2:n.993_995del
NM_001172309.1:c.1227_1229del	NP_001165780.1:p.Arg410del
NM_144573.3:c.1419_1421del , LRG_442t1:c.1419_1421del	NP_653174.3:p.Arg474del
XM_005271322.2:c.1419_1421del	XP_005271379.1:p.Arg474del
XM_005271323.2:c.1377_1379del	XP_005271380.1:p.Arg460del
XM_005271324.3:c.1227_1229del	XP_005271381.1:p.Arg410del
XM_005271325.2:c.1251+2511_1251+2513del	XP_005271382.1:n.1251+2511_1251+2513del
XM_005271326.2:c.1185_1187del	XP_005271383.1:p.Arg396del
XM_005271327.2:c.1002_1004del	XP_005271384.1:p.Arg335del
XM_005271322.4:c.1419_1421del	XP_005271379.1:p.Arg474del
XM_005271323.4:c.1377_1379del	XP_005271380.1:p.Arg460del
XM_005271324.5:c.1227_1229del	XP_005271381.1:p.Arg410del
XM_005271325.4:c.1251+2511_1251+2513del	XP_005271382.1:n.1251+2511_1251+2513del
XM_005271326.4:c.1185_1187del	XP_005271383.1:p.Arg396del
XM_005271327.4:c.1002_1004del	XP_005271384.1:p.Arg335del
NM_001172309.2:c.1227_1229del	NP_001165780.1:p.Arg410del
NM_144573.4:c.1419_1421del MANE Select	NP_653174.3:p.Arg474del