Canonical Allele Identifier: CA658824375

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411193dup , CM000677.2:g.48411193dup	GRCh38
NC_000015.9:g.48703390dup , CM000677.1:g.48703390dup	GRCh37
NC_000015.8:g.46490682dup	NCBI36
NG_008805.2:g.239599dup , LRG_778:g.239599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1224dup	ENSP00000453958.2:n.*1224dup
ENST00000674301.2:c.*1929dup	ENSP00000501333.2:n.*1929dup
ENST00000682158.1:n.1797dup
ENST00000682170.1:n.2597dup
ENST00000682767.1:n.1713dup
ENST00000316623.10:c.8416dup MANE Select	ENSP00000325527.5:p.Ile2806AsnfsTer28
ENST00000674301.1:c.3582dup	ENSP00000501333.1:n.3582dup
ENST00000316623.9:c.8416dup	ENSP00000325527.5:p.Ile2806AsnfsTer28
ENST00000559133.5:c.3785dup
NM_000138.4:c.8416dup , LRG_778t1:c.8416dup	NP_000129.3:p.Ile2806AsnfsTer28
NM_000138.5:c.8416dup MANE Select	NP_000129.3:p.Ile2806AsnfsTer28