Canonical Allele Identifier: CA2695220491

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411319dup , CM000677.2:g.48411319dup	GRCh38
NC_000015.9:g.48703516dup , CM000677.1:g.48703516dup	GRCh37
NC_000015.8:g.46490808dup	NCBI36
NG_008805.2:g.239470dup , LRG_778:g.239470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1095dup	ENSP00000453958.2:n.*1095dup
ENST00000674301.2:c.*1800dup	ENSP00000501333.2:n.*1800dup
ENST00000682158.1:n.1668dup
ENST00000682170.1:n.2468dup
ENST00000682767.1:n.1584dup
ENST00000316623.10:c.8287dup MANE Select	ENSP00000325527.5:p.Ile2763AsnfsTer11
ENST00000674301.1:c.3453dup	ENSP00000501333.1:n.3453dup
ENST00000316623.9:c.8287dup	ENSP00000325527.5:p.Ile2763AsnfsTer11
ENST00000559133.5:c.3656dup
ENST00000561429.1:n.542dup
NM_000138.4:c.8287dup , LRG_778t1:c.8287dup	NP_000129.3:p.Ile2763AsnfsTer11
NM_000138.5:c.8287dup MANE Select	NP_000129.3:p.Ile2763AsnfsTer11