Canonical Allele Identifier: CA916082419

Gene: FBN1

Linked Data

• ClinVar Variation Id: 851202
• ClinVar RCV Id: RCV001055547
• dbSNP Id: rs2043151079

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445430_48445433dup , CM000677.2:g.48445430_48445433dup	GRCh38
NC_000015.9:g.48737627_48737630dup , CM000677.1:g.48737627_48737630dup	GRCh37
NC_000015.8:g.46524919_46524922dup	NCBI36
NG_008805.2:g.205356_205359dup , LRG_778:g.205356_205359dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5860_5863dup	ENSP00000453958.2:p.Gln1955LeufsTer7
ENST00000674301.2:c.5860_5863dup	ENSP00000501333.2:p.Gln1955LeufsTer7
ENST00000684448.1:n.4534_4537dup
ENST00000316623.10:c.5860_5863dup MANE Select	ENSP00000325527.5:p.Gln1955LeufsTer7
ENST00000674301.1:c.859_862dup	ENSP00000501333.1:p.Gln288LeufsTer7
ENST00000316623.9:c.5860_5863dup	ENSP00000325527.5:p.Gln1955LeufsTer7
ENST00000537463.6:c.*1623_*1626dup	ENSP00000440294.2:n.*1623_*1626dup
ENST00000559133.5:c.1167_1170dup
NM_000138.4:c.5860_5863dup , LRG_778t1:c.5860_5863dup	NP_000129.3:p.Gln1955LeufsTer7
NM_000138.5:c.5860_5863dup MANE Select	NP_000129.3:p.Gln1955LeufsTer7