Canonical Allele Identifier: CA658824926

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549368
• ClinVar RCV Id: RCV000663902
• dbSNP Id: rs1555394775
• MyVariant Identifiers: chr15:g.48722949del (hg19) ; chr15:g.48430752del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430753del , CM000677.2:g.48430753del	GRCh38
NC_000015.9:g.48722950del , CM000677.1:g.48722950del	GRCh37
NC_000015.8:g.46510242del	NCBI36
NG_008805.2:g.220037del , LRG_778:g.220037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6790del	ENSP00000453958.2:p.Glu2264AsnfsTer27
ENST00000674301.2:c.*241del	ENSP00000501333.2:n.*241del
ENST00000682170.1:n.399del
ENST00000316623.10:c.6790del MANE Select	ENSP00000325527.5:p.Glu2264AsnfsTer27
ENST00000674301.1:c.1894del	ENSP00000501333.1:n.1894del
ENST00000316623.9:c.6790del	ENSP00000325527.5:p.Glu2264AsnfsTer27
ENST00000559133.5:c.2097del
ENST00000560720.1:n.77del
NM_000138.4:c.6790del , LRG_778t1:c.6790del	NP_000129.3:p.Glu2264AsnfsTer27
NM_000138.5:c.6790del MANE Select	NP_000129.3:p.Glu2264AsnfsTer27