Canonical Allele Identifier: CA2695220488

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411289del , CM000677.2:g.48411289del	GRCh38
NC_000015.9:g.48703486del , CM000677.1:g.48703486del	GRCh37
NC_000015.8:g.46490778del	NCBI36
NG_008805.2:g.239501del , LRG_778:g.239501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1126del	ENSP00000453958.2:n.*1126del
ENST00000674301.2:c.*1831del	ENSP00000501333.2:n.*1831del
ENST00000682158.1:n.1699del
ENST00000682170.1:n.2499del
ENST00000682767.1:n.1615del
ENST00000316623.10:c.8318del MANE Select	ENSP00000325527.5:p.Asn2773ThrfsTer6
ENST00000674301.1:c.3484del	ENSP00000501333.1:n.3484del
ENST00000316623.9:c.8318del	ENSP00000325527.5:p.Asn2773ThrfsTer6
ENST00000559133.5:c.3687del
ENST00000561429.1:n.573del
NM_000138.4:c.8318del , LRG_778t1:c.8318del	NP_000129.3:p.Asn2773ThrfsTer6
NM_000138.5:c.8318del MANE Select	NP_000129.3:p.Asn2773ThrfsTer6