Canonical Allele Identifier: CA658824381

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549451
• ClinVar RCV Id: RCV000664008
• dbSNP Id: rs1555393824
• ERepo: CA658824381/MONDO:0007947/022

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415536delinsAA , CM000677.2:g.48415536delinsAA	GRCh38
NC_000015.9:g.48707733delinsAA , CM000677.1:g.48707733delinsAA	GRCh37
NC_000015.8:g.46495025delinsAA	NCBI36
NG_008805.2:g.235253delinsTT , LRG_778:g.235253delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859delinsTT	ENSP00000453958.2:n.*859delinsTT
ENST00000674301.2:c.*1564delinsTT	ENSP00000501333.2:n.*1564delinsTT
ENST00000682158.1:n.1432delinsTT
ENST00000682170.1:n.2232delinsTT
ENST00000682767.1:n.1348delinsTT
ENST00000316623.10:c.8051delinsTT MANE Select	ENSP00000325527.5:p.Gly2684ValfsTer21
ENST00000674301.1:c.3217delinsTT	ENSP00000501333.1:n.3217delinsTT
ENST00000316623.9:c.8051delinsTT	ENSP00000325527.5:p.Gly2684ValfsTer21
ENST00000559133.5:c.3420delinsTT
ENST00000561429.1:n.306delinsTT
NM_000138.4:c.8051delinsTT , LRG_778t1:c.8051delinsTT	NP_000129.3:p.Gly2684ValfsTer21
NM_000138.5:c.8051delinsTT MANE Select	NP_000129.3:p.Gly2684ValfsTer21