Canonical Allele Identifier: CA017533

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412731del , CM000677.2:g.48412731del	GRCh38
NC_000015.9:g.48704928del , CM000677.1:g.48704928del	GRCh37
NC_000015.8:g.46492220del	NCBI36
NG_008805.2:g.238058del , LRG_778:g.238058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*872del	ENSP00000453958.2:n.*872del
ENST00000674301.2:c.*1577del	ENSP00000501333.2:n.*1577del
ENST00000682158.1:n.1445del
ENST00000682170.1:n.2245del
ENST00000682767.1:n.1361del
ENST00000316623.10:c.8064del MANE Select	ENSP00000325527.5:p.Gly2689GlufsTer?
ENST00000674301.1:c.3230del	ENSP00000501333.1:n.3230del
ENST00000316623.9:c.8064del	ENSP00000325527.5:p.Gly2689GlufsTer?
ENST00000559133.5:c.3433del
ENST00000561429.1:n.319del
NM_000138.4:c.8064del , LRG_778t1:c.8064del	NP_000129.3:p.Gly2689GlufsTer?
NM_000138.5:c.8064del MANE Select	NP_000129.3:p.Gly2689GlufsTer?