Canonical Allele Identifier: CA2580089562

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2112131
• ClinVar RCV Id: RCV003024173

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411129del , CM000677.2:g.48411129del	GRCh38
NC_000015.9:g.48703326del , CM000677.1:g.48703326del	GRCh37
NC_000015.8:g.46490618del	NCBI36
NG_008805.2:g.239661del , LRG_778:g.239661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1286del	ENSP00000453958.2:n.*1286del
ENST00000674301.2:c.*1991del	ENSP00000501333.2:n.*1991del
ENST00000682158.1:n.1859del
ENST00000682170.1:n.2659del
ENST00000682767.1:n.1775del
ENST00000316623.10:c.8478del MANE Select	ENSP00000325527.5:p.Tyr2827IlefsTer19
ENST00000674301.1:c.3644del	ENSP00000501333.1:n.3644del
ENST00000316623.9:c.8478del	ENSP00000325527.5:p.Tyr2827IlefsTer19
ENST00000559133.5:c.3847del
NM_000138.4:c.8478del , LRG_778t1:c.8478del	NP_000129.3:p.Tyr2827IlefsTer19
NM_000138.5:c.8478del MANE Select	NP_000129.3:p.Tyr2827IlefsTer19