Canonical Allele Identifier: CA2580089601

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412619del , CM000677.2:g.48412619del	GRCh38
NC_000015.9:g.48704816del , CM000677.1:g.48704816del	GRCh37
NC_000015.8:g.46492108del	NCBI36
NG_008805.2:g.238170del , LRG_778:g.238170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*984del	ENSP00000453958.2:n.*984del
ENST00000674301.2:c.*1689del	ENSP00000501333.2:n.*1689del
ENST00000682158.1:n.1557del
ENST00000682170.1:n.2357del
ENST00000682767.1:n.1473del
ENST00000316623.10:c.8176del MANE Select	ENSP00000325527.5:p.Arg2726GlyfsTer26
ENST00000674301.1:c.3342del	ENSP00000501333.1:n.3342del
ENST00000316623.9:c.8176del	ENSP00000325527.5:p.Arg2726GlyfsTer26
ENST00000559133.5:c.3545del
ENST00000561429.1:n.431del
NM_000138.4:c.8176del , LRG_778t1:c.8176del	NP_000129.3:p.Arg2726GlyfsTer26
NM_000138.5:c.8176del MANE Select	NP_000129.3:p.Arg2726GlyfsTer26