Canonical Allele Identifier: CA2695220200

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422052del , CM000677.2:g.48422052del	GRCh38
NC_000015.9:g.48714249del , CM000677.1:g.48714249del	GRCh37
NC_000015.8:g.46501541del	NCBI36
NG_008805.2:g.228738del , LRG_778:g.228738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*279del	ENSP00000453958.2:n.*279del
ENST00000674301.2:c.*984del	ENSP00000501333.2:n.*984del
ENST00000682170.1:n.1652del
ENST00000682767.1:n.768del
ENST00000316623.10:c.7471del MANE Select	ENSP00000325527.5:p.Thr2491ProfsTer?
ENST00000674301.1:c.2637del	ENSP00000501333.1:n.2637del
ENST00000316623.9:c.7471del	ENSP00000325527.5:p.Thr2491ProfsTer?
ENST00000559133.5:c.2840del
NM_000138.4:c.7471del , LRG_778t1:c.7471del	NP_000129.3:p.Thr2491ProfsTer?
NM_000138.5:c.7471del MANE Select	NP_000129.3:p.Thr2491ProfsTer?