Canonical Allele Identifier: CA658824373

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549465
• ClinVar RCV Id: RCV000664027
• dbSNP Id: rs1555393525
• MyVariant Identifiers: chr15:g.48703324del (hg19) ; chr15:g.48411127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411127del , CM000677.2:g.48411127del	GRCh38
NC_000015.9:g.48703324del , CM000677.1:g.48703324del	GRCh37
NC_000015.8:g.46490616del	NCBI36
NG_008805.2:g.239662del , LRG_778:g.239662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1287del	ENSP00000453958.2:n.*1287del
ENST00000674301.2:c.*1992del	ENSP00000501333.2:n.*1992del
ENST00000682158.1:n.1860del
ENST00000682170.1:n.2660del
ENST00000682767.1:n.1776del
ENST00000316623.10:c.8479del MANE Select	ENSP00000325527.5:p.Tyr2827IlefsTer19
ENST00000674301.1:c.3645del	ENSP00000501333.1:n.3645del
ENST00000316623.9:c.8479del	ENSP00000325527.5:p.Tyr2827IlefsTer19
ENST00000559133.5:c.3848del
NM_000138.4:c.8479del , LRG_778t1:c.8479del	NP_000129.3:p.Tyr2827IlefsTer19
NM_000138.5:c.8479del MANE Select	NP_000129.3:p.Tyr2827IlefsTer19