Canonical Allele Identifier: CA2695220425

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537690_48537700del , CM000677.2:g.48537690_48537700del	GRCh38
NC_000015.9:g.48829887_48829897del , CM000677.1:g.48829887_48829897del	GRCh37
NC_000015.8:g.46617179_46617189del	NCBI36
NG_008805.2:g.113091_113101del , LRG_778:g.113091_113101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.649_659del	ENSP00000453958.2:p.Trp217LeufsTer2
ENST00000674301.2:c.649_659del	ENSP00000501333.2:p.Trp217LeufsTer2
ENST00000316623.10:c.649_659del MANE Select	ENSP00000325527.5:p.Trp217LeufsTer2
ENST00000316623.9:c.649_659del	ENSP00000325527.5:p.Trp217LeufsTer2
ENST00000537463.6:c.636+13_636+23del	ENSP00000440294.2:n.636+13_636+23del
NM_000138.4:c.649_659del , LRG_778t1:c.649_659del	NP_000129.3:p.Trp217LeufsTer2
NM_000138.5:c.649_659del MANE Select	NP_000129.3:p.Trp217LeufsTer2