Canonical Allele Identifier: CA2175497428

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428072_48428074delinsTAC , CM000677.2:g.48428072_48428074delinsTAC	GRCh38
NC_000015.9:g.48720269_48720271delinsTAC , CM000677.1:g.48720269_48720271delinsTAC	GRCh37
NC_000015.8:g.46507561_46507563delinsTAC	NCBI36
NG_008805.2:g.222715_222717delinsGTA , LRG_778:g.222715_222717delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-131_6998-129delinsGTA	ENSP00000453958.2:n.6998-131_6998-129delinsGTA
ENST00000674301.2:c.*449-131_*449-129delinsGTA	ENSP00000501333.2:n.*449-131_*449-129delinsGTA
ENST00000682170.1:n.878_880delinsGTA
ENST00000682767.1:n.233-131_233-129delinsGTA
ENST00000316623.10:c.6997+272_6997+274delinsGTA MANE Select	ENSP00000325527.5:n.6997+272_6997+274delinsGTA
ENST00000674301.1:c.2102-131_2102-129delinsGTA	ENSP00000501333.1:n.2102-131_2102-129delinsGTA
ENST00000316623.9:c.6997+272_6997+274delinsGTA	ENSP00000325527.5:n.6997+272_6997+274delinsGTA
ENST00000559133.5:c.2305-131_2305-129delinsGTA
ENST00000560720.1:n.556_558delinsGTA
NM_000138.4:c.6997+272_6997+274delinsGTA , LRG_778t1:c.6997+272_6997+274delinsGTA	NP_000129.3:n.6997+272_6997+274delinsGTA
NM_000138.5:c.6997+272_6997+274delinsGTA MANE Select	NP_000129.3:n.6997+272_6997+274delinsGTA