Canonical Allele Identifier: CA2695220498

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412642del , CM000677.2:g.48412642del	GRCh38
NC_000015.9:g.48704839del , CM000677.1:g.48704839del	GRCh37
NC_000015.8:g.46492131del	NCBI36
NG_008805.2:g.238147del , LRG_778:g.238147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*961del	ENSP00000453958.2:n.*961del
ENST00000674301.2:c.*1666del	ENSP00000501333.2:n.*1666del
ENST00000682158.1:n.1534del
ENST00000682170.1:n.2334del
ENST00000682767.1:n.1450del
ENST00000316623.10:c.8153del MANE Select	ENSP00000325527.5:p.Cys2718LeufsTer?
ENST00000674301.1:c.3319del	ENSP00000501333.1:n.3319del
ENST00000316623.9:c.8153del	ENSP00000325527.5:p.Cys2718LeufsTer?
ENST00000559133.5:c.3522del
ENST00000561429.1:n.408del
NM_000138.4:c.8153del , LRG_778t1:c.8153del	NP_000129.3:p.Cys2718LeufsTer?
NM_000138.5:c.8153del MANE Select	NP_000129.3:p.Cys2718LeufsTer?