Canonical Allele Identifier: CA658795479

Gene: NEXN

Linked Data

• ClinVar Variation Id: 538107
• ClinVar RCV Id: RCV000647281
• dbSNP Id: rs1553240600
• MyVariant Identifiers: chr1:g.78401604dup (hg19) ; chr1:g.77935919dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935919dup , CM000663.2:g.77935919dup	GRCh38
NC_000001.10:g.78401604dup , CM000663.1:g.78401604dup	GRCh37
NC_000001.9:g.78174192dup	NCBI36
NG_016625.1:g.52405dup , LRG_442:g.52405dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1348dup MANE Select	ENSP00000333938.7:p.Ser450LysfsTer4
ENST00000330010.12:c.1156dup	ENSP00000327363.8:p.Ser386LysfsTer4
ENST00000334785.11:c.1348dup	ENSP00000333938.7:p.Ser450LysfsTer4
ENST00000342754.5:c.1047dup
ENST00000464998.1:n.808dup
ENST00000480732.2:n.922dup
NM_001172309.1:c.1156dup	NP_001165780.1:p.Ser386LysfsTer4
NM_144573.3:c.1348dup , LRG_442t1:c.1348dup	NP_653174.3:p.Ser450LysfsTer4
XM_005271322.2:c.1348dup	XP_005271379.1:p.Ser450LysfsTer4
XM_005271323.2:c.1306dup	XP_005271380.1:p.Ser436LysfsTer4
XM_005271324.3:c.1156dup	XP_005271381.1:p.Ser386LysfsTer4
XM_005271325.2:c.1251+2440dup	XP_005271382.1:n.1251+2440dup
XM_005271326.2:c.1114dup	XP_005271383.1:p.Ser372LysfsTer4
XM_005271327.2:c.931dup	XP_005271384.1:p.Ser311LysfsTer4
XM_005271322.4:c.1348dup	XP_005271379.1:p.Ser450LysfsTer4
XM_005271323.4:c.1306dup	XP_005271380.1:p.Ser436LysfsTer4
XM_005271324.5:c.1156dup	XP_005271381.1:p.Ser386LysfsTer4
XM_005271325.4:c.1251+2440dup	XP_005271382.1:n.1251+2440dup
XM_005271326.4:c.1114dup	XP_005271383.1:p.Ser372LysfsTer4
XM_005271327.4:c.931dup	XP_005271384.1:p.Ser311LysfsTer4
NM_001172309.2:c.1156dup	NP_001165780.1:p.Ser386LysfsTer4
NM_144573.4:c.1348dup MANE Select	NP_653174.3:p.Ser450LysfsTer4