Canonical Allele Identifier: CA2999005593

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446617dup , CM000677.2:g.48446617dup	GRCh38
NC_000015.9:g.48738814dup , CM000677.1:g.48738814dup	GRCh37
NC_000015.8:g.46526106dup	NCBI36
NG_008805.2:g.204175dup , LRG_778:g.204175dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5788+92dup	ENSP00000453958.2:n.5788+92dup
ENST00000674301.2:c.5788+92dup	ENSP00000501333.2:n.5788+92dup
ENST00000684448.1:n.4462+92dup
ENST00000316623.10:c.5788+92dup MANE Select	ENSP00000325527.5:n.5788+92dup
ENST00000674301.1:c.787+92dup	ENSP00000501333.1:n.787+92dup
ENST00000316623.9:c.5788+92dup	ENSP00000325527.5:n.5788+92dup
ENST00000537463.6:c.*1551+92dup	ENSP00000440294.2:n.*1551+92dup
ENST00000559133.5:c.1095+92dup
NM_000138.4:c.5788+92dup , LRG_778t1:c.5788+92dup	NP_000129.3:n.5788+92dup
NM_000138.5:c.5788+92dup MANE Select	NP_000129.3:n.5788+92dup