Canonical Allele Identifier: CA524231039

Gene: NEXN

Linked Data

• dbSNP Id: rs1365488625
• gnomAD v2: 1-78401648-GA-G
• gnomAD v4: 1-77935963-GA-G
• COSMIC: COSM2242558 ; COSM4335407
• MyVariant Identifiers: chr1:g.78401649del (hg19) ; chr1:g.77935964del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935970del , CM000663.2:g.77935970del	GRCh38
NC_000001.10:g.78401655del , CM000663.1:g.78401655del	GRCh37
NC_000001.9:g.78174243del	NCBI36
NG_016625.1:g.52456del , LRG_442:g.52456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1399del MANE Select	ENSP00000333938.7:p.Ile467Ter
ENST00000330010.12:c.1207del	ENSP00000327363.8:p.Ile403Ter
ENST00000334785.11:c.1399del	ENSP00000333938.7:p.Ile467Ter
ENST00000342754.5:c.1098del
ENST00000464998.1:n.859del
ENST00000480732.2:n.973del
NM_001172309.1:c.1207del	NP_001165780.1:p.Ile403Ter
NM_144573.3:c.1399del , LRG_442t1:c.1399del	NP_653174.3:p.Ile467Ter
XM_005271322.2:c.1399del	XP_005271379.1:p.Ile467Ter
XM_005271323.2:c.1357del	XP_005271380.1:p.Ile453Ter
XM_005271324.3:c.1207del	XP_005271381.1:p.Ile403Ter
XM_005271325.2:c.1251+2491del	XP_005271382.1:n.1251+2491del
XM_005271326.2:c.1165del	XP_005271383.1:p.Ile389Ter
XM_005271327.2:c.982del	XP_005271384.1:p.Ile328Ter
XM_005271322.4:c.1399del	XP_005271379.1:p.Ile467Ter
XM_005271323.4:c.1357del	XP_005271380.1:p.Ile453Ter
XM_005271324.5:c.1207del	XP_005271381.1:p.Ile403Ter
XM_005271325.4:c.1251+2491del	XP_005271382.1:n.1251+2491del
XM_005271326.4:c.1165del	XP_005271383.1:p.Ile389Ter
XM_005271327.4:c.982del	XP_005271384.1:p.Ile328Ter
NM_001172309.2:c.1207del	NP_001165780.1:p.Ile403Ter
NM_144573.4:c.1399del MANE Select	NP_653174.3:p.Ile467Ter