Canonical Allele Identifier: CA2580089542

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2444123
• ClinVar RCV Id: RCV003152921

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463935_48463953del , CM000677.2:g.48463935_48463953del	GRCh38
NC_000015.9:g.48756132_48756150del , CM000677.1:g.48756132_48756150del	GRCh37
NC_000015.8:g.46543424_46543442del	NCBI36
NG_008805.2:g.186838_186856del , LRG_778:g.186838_186856del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5013_5031del	ENSP00000453958.2:p.Cys1672ThrfsTer4
ENST00000674301.2:c.5013_5031del	ENSP00000501333.2:p.Cys1672ThrfsTer4
ENST00000684448.1:n.3687_3705del
ENST00000316623.10:c.5013_5031del MANE Select	ENSP00000325527.5:p.Cys1672ThrfsTer4
ENST00000674301.1:c.12_30del	ENSP00000501333.1:p.Cys5ThrfsTer4
ENST00000316623.9:c.5013_5031del	ENSP00000325527.5:p.Cys1672ThrfsTer4
ENST00000537463.6:c.*776_*794del	ENSP00000440294.2:n.*776_*794del
ENST00000559133.5:c.320_338del
NM_000138.4:c.5013_5031del , LRG_778t1:c.5013_5031del	NP_000129.3:p.Cys1672ThrfsTer4
NM_000138.5:c.5013_5031del MANE Select	NP_000129.3:p.Cys1672ThrfsTer4