Canonical Allele Identifier: CA2592720044

Gene: FBN1

Linked Data

• dbSNP Id: rs2141222690
• gnomAD v3: 15-48422128-T-TG
• gnomAD v4: 15-48422128-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422129dup , CM000677.2:g.48422129dup	GRCh38
NC_000015.9:g.48714326dup , CM000677.1:g.48714326dup	GRCh37
NC_000015.8:g.46501618dup	NCBI36
NG_008805.2:g.228660dup , LRG_778:g.228660dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-61dup	ENSP00000453958.2:n.*262-61dup
ENST00000674301.2:c.*967-61dup	ENSP00000501333.2:n.*967-61dup
ENST00000682170.1:n.1635-61dup
ENST00000682767.1:n.751-61dup
ENST00000316623.10:c.7454-61dup MANE Select	ENSP00000325527.5:n.7454-61dup
ENST00000674301.1:c.2620-61dup	ENSP00000501333.1:n.2620-61dup
ENST00000316623.9:c.7454-61dup	ENSP00000325527.5:n.7454-61dup
ENST00000559133.5:c.2823-61dup
NM_000138.4:c.7454-61dup , LRG_778t1:c.7454-61dup	NP_000129.3:n.7454-61dup
NM_000138.5:c.7454-61dup MANE Select	NP_000129.3:n.7454-61dup