Canonical Allele Identifier: CA2695220598

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468427del , CM000677.2:g.48468427del	GRCh38
NC_000015.9:g.48760624del , CM000677.1:g.48760624del	GRCh37
NC_000015.8:g.46547916del	NCBI36
NG_008805.2:g.182362del , LRG_778:g.182362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4567del	ENSP00000453958.2:p.Arg1523GlufsTer?
ENST00000674301.2:c.4567del	ENSP00000501333.2:p.Arg1523GlufsTer?
ENST00000684448.1:n.3241del
ENST00000316623.10:c.4567del MANE Select	ENSP00000325527.5:p.Arg1523GlufsTer?
ENST00000316623.9:c.4567del	ENSP00000325527.5:p.Arg1523GlufsTer?
ENST00000537463.6:c.*330del	ENSP00000440294.2:n.*330del
NM_000138.4:c.4567del , LRG_778t1:c.4567del	NP_000129.3:p.Arg1523GlufsTer?
NM_000138.5:c.4567del MANE Select	NP_000129.3:p.Arg1523GlufsTer?