Canonical Allele Identifier: CA918862

Gene: NEXN

Linked Data

• dbSNP Id: rs769627761
• ExAC: 1:78401602 AAAGC / A
• gnomAD v2: 1-78401602-AAAGC-A
• gnomAD v4: 1-77935917-AAAGC-A
• MyVariant Identifiers: chr1:g.78401603_78401606del (hg19) ; chr1:g.77935918_77935921del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935921_77935924del , CM000663.2:g.77935921_77935924del	GRCh38
NC_000001.10:g.78401606_78401609del , CM000663.1:g.78401606_78401609del	GRCh37
NC_000001.9:g.78174194_78174197del	NCBI36
NG_016625.1:g.52407_52410del , LRG_442:g.52407_52410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1350_1353del MANE Select	ENSP00000333938.7:p.Lys451LeufsTer16
ENST00000330010.12:c.1158_1161del	ENSP00000327363.8:p.Lys387LeufsTer16
ENST00000334785.11:c.1350_1353del	ENSP00000333938.7:p.Lys451LeufsTer16
ENST00000342754.5:c.1049_1052del
ENST00000464998.1:n.810_813del
ENST00000480732.2:n.924_927del
NM_001172309.1:c.1158_1161del	NP_001165780.1:p.Lys387LeufsTer16
NM_144573.3:c.1350_1353del , LRG_442t1:c.1350_1353del	NP_653174.3:p.Lys451LeufsTer16
XM_005271322.2:c.1350_1353del	XP_005271379.1:p.Lys451LeufsTer16
XM_005271323.2:c.1308_1311del	XP_005271380.1:p.Lys437LeufsTer16
XM_005271324.3:c.1158_1161del	XP_005271381.1:p.Lys387LeufsTer16
XM_005271325.2:c.1251+2442_1251+2445del	XP_005271382.1:n.1251+2442_1251+2445del
XM_005271326.2:c.1116_1119del	XP_005271383.1:p.Lys373LeufsTer16
XM_005271327.2:c.933_936del	XP_005271384.1:p.Lys312LeufsTer16
XM_005271322.4:c.1350_1353del	XP_005271379.1:p.Lys451LeufsTer16
XM_005271323.4:c.1308_1311del	XP_005271380.1:p.Lys437LeufsTer16
XM_005271324.5:c.1158_1161del	XP_005271381.1:p.Lys387LeufsTer16
XM_005271325.4:c.1251+2442_1251+2445del	XP_005271382.1:n.1251+2442_1251+2445del
XM_005271326.4:c.1116_1119del	XP_005271383.1:p.Lys373LeufsTer16
XM_005271327.4:c.933_936del	XP_005271384.1:p.Lys312LeufsTer16
NM_001172309.2:c.1158_1161del	NP_001165780.1:p.Lys387LeufsTer16
NM_144573.4:c.1350_1353del MANE Select	NP_653174.3:p.Lys451LeufsTer16