Canonical Allele Identifier: CA2695220592

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467992_48467995dup , CM000677.2:g.48467992_48467995dup	GRCh38
NC_000015.9:g.48760189_48760192dup , CM000677.1:g.48760189_48760192dup	GRCh37
NC_000015.8:g.46547481_46547484dup	NCBI36
NG_008805.2:g.182794_182797dup , LRG_778:g.182794_182797dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4690_4693dup	ENSP00000453958.2:p.Ser1565LeufsTer5
ENST00000674301.2:c.4690_4693dup	ENSP00000501333.2:p.Ser1565LeufsTer5
ENST00000684448.1:n.3364_3367dup
ENST00000316623.10:c.4690_4693dup MANE Select	ENSP00000325527.5:p.Ser1565LeufsTer5
ENST00000316623.9:c.4690_4693dup	ENSP00000325527.5:p.Ser1565LeufsTer5
ENST00000537463.6:c.*453_*456dup	ENSP00000440294.2:n.*453_*456dup
NM_000138.4:c.4690_4693dup , LRG_778t1:c.4690_4693dup	NP_000129.3:p.Ser1565LeufsTer5
NM_000138.5:c.4690_4693dup MANE Select	NP_000129.3:p.Ser1565LeufsTer5