Canonical Allele Identifier: CA2695220167

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428460dup , CM000677.2:g.48428460dup	GRCh38
NC_000015.9:g.48720657dup , CM000677.1:g.48720657dup	GRCh37
NC_000015.8:g.46507949dup	NCBI36
NG_008805.2:g.222329dup , LRG_778:g.222329dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6883dup	ENSP00000453958.2:p.Cys2295LeufsTer9
ENST00000674301.2:c.*334dup	ENSP00000501333.2:n.*334dup
ENST00000682170.1:n.492dup
ENST00000682767.1:n.118dup
ENST00000316623.10:c.6883dup MANE Select	ENSP00000325527.5:p.Cys2295LeufsTer9
ENST00000674301.1:c.1987dup	ENSP00000501333.1:n.1987dup
ENST00000316623.9:c.6883dup	ENSP00000325527.5:p.Cys2295LeufsTer9
ENST00000559133.5:c.2190dup
ENST00000560720.1:n.170dup
NM_000138.4:c.6883dup , LRG_778t1:c.6883dup	NP_000129.3:p.Cys2295LeufsTer9
NM_000138.5:c.6883dup MANE Select	NP_000129.3:p.Cys2295LeufsTer9