Canonical Allele Identifier: CA2580612803

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2091179
• ClinVar RCV Id: RCV002991552

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485443_48485444del , CM000677.2:g.48485443_48485444del	GRCh38
NC_000015.9:g.48777640_48777641del , CM000677.1:g.48777640_48777641del	GRCh37
NC_000015.8:g.46564932_46564933del	NCBI36
NG_008805.2:g.165347_165348del , LRG_778:g.165347_165348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3644_3645del	ENSP00000453958.2:p.Ser1215Ter
ENST00000674301.2:c.3644_3645del	ENSP00000501333.2:p.Ser1215Ter
ENST00000684448.1:n.2318_2319del
ENST00000316623.10:c.3644_3645del MANE Select	ENSP00000325527.5:p.Ser1215Ter
ENST00000316623.9:c.3644_3645del	ENSP00000325527.5:p.Ser1215Ter
ENST00000537463.6:c.637-10792_637-10791del	ENSP00000440294.2:n.637-10792_637-10791del
NM_000138.4:c.3644_3645del , LRG_778t1:c.3644_3645del	NP_000129.3:p.Ser1215Ter
NM_000138.5:c.3644_3645del MANE Select	NP_000129.3:p.Ser1215Ter