Canonical Allele Identifier: CA2695220241

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445496del , CM000677.2:g.48445496del	GRCh38
NC_000015.9:g.48737693del , CM000677.1:g.48737693del	GRCh37
NC_000015.8:g.46524985del	NCBI36
NG_008805.2:g.205293del , LRG_778:g.205293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5797del	ENSP00000453958.2:p.Glu1933AsnfsTer?
ENST00000674301.2:c.5797del	ENSP00000501333.2:p.Glu1933AsnfsTer?
ENST00000684448.1:n.4471del
ENST00000316623.10:c.5797del MANE Select	ENSP00000325527.5:p.Glu1933AsnfsTer?
ENST00000674301.1:c.796del	ENSP00000501333.1:p.Glu266AsnfsTer?
ENST00000316623.9:c.5797del	ENSP00000325527.5:p.Glu1933AsnfsTer?
ENST00000537463.6:c.*1560del	ENSP00000440294.2:n.*1560del
ENST00000559133.5:c.1104del
NM_000138.4:c.5797del , LRG_778t1:c.5797del	NP_000129.3:p.Glu1933AsnfsTer?
NM_000138.5:c.5797del MANE Select	NP_000129.3:p.Glu1933AsnfsTer?