Canonical Allele Identifier: CA524230991

Gene: NEXN

Linked Data

• ClinVar Variation Id: 2633553
• ClinVar RCV Id: RCV004529294
• dbSNP Id: rs1557990893
• gnomAD v2: 1-78401545-AAT-A
• gnomAD v4: 1-77935860-AAT-A
• MyVariant Identifiers: chr1:g.78401546_78401547del (hg19) ; chr1:g.77935861_77935862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935863_77935864del , CM000663.2:g.77935863_77935864del	GRCh38
NC_000001.10:g.78401548_78401549del , CM000663.1:g.78401548_78401549del	GRCh37
NC_000001.9:g.78174136_78174137del	NCBI36
NG_016625.1:g.52349_52350del , LRG_442:g.52349_52350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1292_1293del MANE Select	ENSP00000333938.7:p.Tyr431Ter
ENST00000330010.12:c.1100_1101del	ENSP00000327363.8:p.Tyr367Ter
ENST00000334785.11:c.1292_1293del	ENSP00000333938.7:p.Tyr431Ter
ENST00000342754.5:c.991_992del
ENST00000440324.5:c.1250_1251del	ENSP00000411902.1:p.Tyr417Ter
ENST00000464998.1:n.752_753del
ENST00000480732.2:n.866_867del
NM_001172309.1:c.1100_1101del	NP_001165780.1:p.Tyr367Ter
NM_144573.3:c.1292_1293del , LRG_442t1:c.1292_1293del	NP_653174.3:p.Tyr431Ter
XM_005271322.2:c.1292_1293del	XP_005271379.1:p.Tyr431Ter
XM_005271323.2:c.1250_1251del	XP_005271380.1:p.Tyr417Ter
XM_005271324.3:c.1100_1101del	XP_005271381.1:p.Tyr367Ter
XM_005271325.2:c.1251+2384_1251+2385del	XP_005271382.1:n.1251+2384_1251+2385del
XM_005271326.2:c.1058_1059del	XP_005271383.1:p.Tyr353Ter
XM_005271327.2:c.875_876del	XP_005271384.1:p.Tyr292Ter
XM_005271322.4:c.1292_1293del	XP_005271379.1:p.Tyr431Ter
XM_005271323.4:c.1250_1251del	XP_005271380.1:p.Tyr417Ter
XM_005271324.5:c.1100_1101del	XP_005271381.1:p.Tyr367Ter
XM_005271325.4:c.1251+2384_1251+2385del	XP_005271382.1:n.1251+2384_1251+2385del
XM_005271326.4:c.1058_1059del	XP_005271383.1:p.Tyr353Ter
XM_005271327.4:c.875_876del	XP_005271384.1:p.Tyr292Ter
NM_001172309.2:c.1100_1101del	NP_001165780.1:p.Tyr367Ter
NM_144573.4:c.1292_1293del MANE Select	NP_653174.3:p.Tyr431Ter