Canonical Allele Identifier: CA2695220190

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421975_48421999del , CM000677.2:g.48421975_48421999del	GRCh38
NC_000015.9:g.48714172_48714196del , CM000677.1:g.48714172_48714196del	GRCh37
NC_000015.8:g.46501464_46501488del	NCBI36
NG_008805.2:g.228791_228815del , LRG_778:g.228791_228815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*332_*356del	ENSP00000453958.2:n.*332_*356del
ENST00000674301.2:c.*1037_*1061del	ENSP00000501333.2:n.*1037_*1061del
ENST00000682170.1:n.1705_1729del
ENST00000682767.1:n.821_845del
ENST00000316623.10:c.7524_7548del MANE Select	ENSP00000325527.5:p.Cys2509AsnfsTer?
ENST00000674301.1:c.2690_2714del	ENSP00000501333.1:n.2690_2714del
ENST00000316623.9:c.7524_7548del	ENSP00000325527.5:p.Cys2509AsnfsTer?
ENST00000559133.5:c.2893_2917del
NM_000138.4:c.7524_7548del , LRG_778t1:c.7524_7548del	NP_000129.3:p.Cys2509AsnfsTer?
NM_000138.5:c.7524_7548del MANE Select	NP_000129.3:p.Cys2509AsnfsTer?