Canonical Allele Identifier: CA10587831

Gene: FBN1

Linked Data

• ClinVar Variation Id: 264549
• ClinVar RCV Id: RCV002311215
• dbSNP Id: rs140596
• MyVariant Identifiers: chr15:g.48776086_48776088delinsGTACAG (hg19) ; chr15:g.48483889_48483891delinsGTACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483889_48483891delinsGTACAG , CM000677.2:g.48483889_48483891delinsGTACAG	GRCh38
NC_000015.9:g.48776086_48776088delinsGTACAG , CM000677.1:g.48776086_48776088delinsGTACAG	GRCh37
NC_000015.8:g.46563378_46563380delinsGTACAG	NCBI36
NG_008805.2:g.166898_166900delinsCTGTAC , LRG_778:g.166898_166900delinsCTGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3765_3767delinsCTGTAC	ENSP00000453958.2:p.Asn1256delinsCysThr
ENST00000674301.2:c.3765_3767delinsCTGTAC	ENSP00000501333.2:p.Asn1256delinsCysThr
ENST00000684448.1:n.2439_2441delinsCTGTAC
ENST00000316623.10:c.3765_3767delinsCTGTAC MANE Select	ENSP00000325527.5:p.Asn1256delinsCysThr
ENST00000316623.9:c.3765_3767delinsCTGTAC	ENSP00000325527.5:p.Asn1256delinsCysThr
ENST00000537463.6:c.637-9241_637-9239delinsCTGTAC	ENSP00000440294.2:n.637-9241_637-9239delinsCTGTAC
NM_000138.4:c.3765_3767delinsCTGTAC , LRG_778t1:c.3765_3767delinsCTGTAC	NP_000129.3:p.Asn1256delinsCysThr
NM_000138.5:c.3765_3767delinsCTGTAC MANE Select	NP_000129.3:p.Asn1256delinsCysThr