Canonical Allele Identifier: CA2628331273

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428087-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428088del , CM000677.2:g.48428088del	GRCh38
NC_000015.9:g.48720285del , CM000677.1:g.48720285del	GRCh37
NC_000015.8:g.46507577del	NCBI36
NG_008805.2:g.222701del , LRG_778:g.222701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-145del	ENSP00000453958.2:n.6998-145del
ENST00000674301.2:c.*449-145del	ENSP00000501333.2:n.*449-145del
ENST00000682170.1:n.864del
ENST00000682767.1:n.233-145del
ENST00000316623.10:c.6997+258del MANE Select	ENSP00000325527.5:n.6997+258del
ENST00000674301.1:c.2102-145del	ENSP00000501333.1:n.2102-145del
ENST00000316623.9:c.6997+258del	ENSP00000325527.5:n.6997+258del
ENST00000559133.5:c.2305-145del
ENST00000560720.1:n.542del
NM_000138.4:c.6997+258del , LRG_778t1:c.6997+258del	NP_000129.3:n.6997+258del
NM_000138.5:c.6997+258del MANE Select	NP_000129.3:n.6997+258del