Canonical Allele Identifier: CA2580089597

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492564del , CM000677.2:g.48492564del	GRCh38
NC_000015.9:g.48784761del , CM000677.1:g.48784761del	GRCh37
NC_000015.8:g.46572053del	NCBI36
NG_008805.2:g.158227del , LRG_778:g.158227del

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.2753del MANE Select	NP_000129.3:p.Pro918GlnfsTer24
ENST00000316623.10:c.2753del MANE Select	ENSP00000325527.5:p.Pro918GlnfsTer24
NM_000138.4:c.2753del , LRG_778t1:c.2753del	NP_000129.3:p.Pro918GlnfsTer24
ENST00000316623.9:c.2753del	ENSP00000325527.5:p.Pro918GlnfsTer24
ENST00000537463.6:c.637-17912del	ENSP00000440294.2:n.637-17912del
ENST00000559133.6:c.2753del	ENSP00000453958.2:p.Pro918GlnfsTer24
ENST00000674301.2:c.2753del	ENSP00000501333.2:p.Pro918GlnfsTer24
ENST00000684448.1:n.1427del