Canonical Allele Identifier: CA915945998

Gene: FBN1

Linked Data

• ClinVar Variation Id: 691636
• ClinVar RCV Id: RCV000852401
• dbSNP Id: rs1597552388

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472568del , CM000677.2:g.48472568del	GRCh38
NC_000015.9:g.48764765del , CM000677.1:g.48764765del	GRCh37
NC_000015.8:g.46552057del	NCBI36
NG_008805.2:g.178221del , LRG_778:g.178221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4319del	ENSP00000453958.2:p.Asp1440AlafsTer?
ENST00000674301.2:c.4319del	ENSP00000501333.2:p.Asp1440AlafsTer?
ENST00000683268.1:n.286del
ENST00000684448.1:n.2993del
ENST00000316623.10:c.4319del MANE Select	ENSP00000325527.5:p.Asp1440AlafsTer?
ENST00000316623.9:c.4319del	ENSP00000325527.5:p.Asp1440AlafsTer?
ENST00000537463.6:c.*82del	ENSP00000440294.2:n.*82del
NM_000138.4:c.4319del , LRG_778t1:c.4319del	NP_000129.3:p.Asp1440AlafsTer?
NM_000138.5:c.4319del MANE Select	NP_000129.3:p.Asp1440AlafsTer?