Canonical Allele Identifier: CA2695220830

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411133del , CM000677.2:g.48411133del	GRCh38
NC_000015.9:g.48703330del , CM000677.1:g.48703330del	GRCh37
NC_000015.8:g.46490622del	NCBI36
NG_008805.2:g.239657del , LRG_778:g.239657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1282del	ENSP00000453958.2:n.*1282del
ENST00000674301.2:c.*1987del	ENSP00000501333.2:n.*1987del
ENST00000682158.1:n.1855del
ENST00000682170.1:n.2655del
ENST00000682767.1:n.1771del
ENST00000316623.10:c.8474del MANE Select	ENSP00000325527.5:p.Gly2825GlufsTer21
ENST00000674301.1:c.3640del	ENSP00000501333.1:n.3640del
ENST00000316623.9:c.8474del	ENSP00000325527.5:p.Gly2825GlufsTer21
ENST00000559133.5:c.3843del
NM_000138.4:c.8474del , LRG_778t1:c.8474del	NP_000129.3:p.Gly2825GlufsTer21
NM_000138.5:c.8474del MANE Select	NP_000129.3:p.Gly2825GlufsTer21