Canonical Allele Identifier: CA2628331282

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428088-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428089dup , CM000677.2:g.48428089dup	GRCh38
NC_000015.9:g.48720286dup , CM000677.1:g.48720286dup	GRCh37
NC_000015.8:g.46507578dup	NCBI36
NG_008805.2:g.222700dup , LRG_778:g.222700dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-146dup	ENSP00000453958.2:n.6998-146dup
ENST00000674301.2:c.*449-146dup	ENSP00000501333.2:n.*449-146dup
ENST00000682170.1:n.863dup
ENST00000682767.1:n.233-146dup
ENST00000316623.10:c.6997+257dup MANE Select	ENSP00000325527.5:n.6997+257dup
ENST00000674301.1:c.2102-146dup	ENSP00000501333.1:n.2102-146dup
ENST00000316623.9:c.6997+257dup	ENSP00000325527.5:n.6997+257dup
ENST00000559133.5:c.2305-146dup
ENST00000560720.1:n.541dup
NM_000138.4:c.6997+257dup , LRG_778t1:c.6997+257dup	NP_000129.3:n.6997+257dup
NM_000138.5:c.6997+257dup MANE Select	NP_000129.3:n.6997+257dup