Canonical Allele Identifier: CA2695220490

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411316dup , CM000677.2:g.48411316dup	GRCh38
NC_000015.9:g.48703513dup , CM000677.1:g.48703513dup	GRCh37
NC_000015.8:g.46490805dup	NCBI36
NG_008805.2:g.239475dup , LRG_778:g.239475dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1100dup	ENSP00000453958.2:n.*1100dup
ENST00000674301.2:c.*1805dup	ENSP00000501333.2:n.*1805dup
ENST00000682158.1:n.1673dup
ENST00000682170.1:n.2473dup
ENST00000682767.1:n.1589dup
ENST00000316623.10:c.8292dup MANE Select	ENSP00000325527.5:p.Ala2765CysfsTer9
ENST00000674301.1:c.3458dup	ENSP00000501333.1:n.3458dup
ENST00000316623.9:c.8292dup	ENSP00000325527.5:p.Ala2765CysfsTer9
ENST00000559133.5:c.3661dup
ENST00000561429.1:n.547dup
NM_000138.4:c.8292dup , LRG_778t1:c.8292dup	NP_000129.3:p.Ala2765CysfsTer9
NM_000138.5:c.8292dup MANE Select	NP_000129.3:p.Ala2765CysfsTer9