Canonical Allele Identifier: CA2695220505

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415544dup , CM000677.2:g.48415544dup	GRCh38
NC_000015.9:g.48707741dup , CM000677.1:g.48707741dup	GRCh37
NC_000015.8:g.46495033dup	NCBI36
NG_008805.2:g.235245dup , LRG_778:g.235245dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*851dup	ENSP00000453958.2:n.*851dup
ENST00000674301.2:c.*1556dup	ENSP00000501333.2:n.*1556dup
ENST00000682158.1:n.1424dup
ENST00000682170.1:n.2224dup
ENST00000682767.1:n.1340dup
ENST00000316623.10:c.8043dup MANE Select	ENSP00000325527.5:p.Gly2682ArgfsTer23
ENST00000674301.1:c.3209dup	ENSP00000501333.1:n.3209dup
ENST00000316623.9:c.8043dup	ENSP00000325527.5:p.Gly2682ArgfsTer23
ENST00000559133.5:c.3412dup
ENST00000561429.1:n.298dup
NM_000138.4:c.8043dup , LRG_778t1:c.8043dup	NP_000129.3:p.Gly2682ArgfsTer23
NM_000138.5:c.8043dup MANE Select	NP_000129.3:p.Gly2682ArgfsTer23