Canonical Allele Identifier: CA916082418

Gene: FBN1

Linked Data

• ClinVar Variation Id: 857721
• ClinVar RCV Id: RCV001063450
• dbSNP Id: rs2043150170

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445381del , CM000677.2:g.48445381del	GRCh38
NC_000015.9:g.48737578del , CM000677.1:g.48737578del	GRCh37
NC_000015.8:g.46524870del	NCBI36
NG_008805.2:g.205408del , LRG_778:g.205408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5912del	ENSP00000453958.2:p.Cys1971LeufsTer9
ENST00000674301.2:c.5912del	ENSP00000501333.2:p.Cys1971LeufsTer9
ENST00000684448.1:n.4586del
ENST00000316623.10:c.5912del MANE Select	ENSP00000325527.5:p.Cys1971LeufsTer9
ENST00000674301.1:c.911del	ENSP00000501333.1:p.Cys304LeufsTer9
ENST00000316623.9:c.5912del	ENSP00000325527.5:p.Cys1971LeufsTer9
ENST00000537463.6:c.*1675del	ENSP00000440294.2:n.*1675del
ENST00000559133.5:c.1219del
ENST00000560820.1:n.32del
NM_000138.4:c.5912del , LRG_778t1:c.5912del	NP_000129.3:p.Cys1971LeufsTer9
NM_000138.5:c.5912del MANE Select	NP_000129.3:p.Cys1971LeufsTer9