Canonical Allele Identifier: CA2573150944

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1404071
• ClinVar RCV Id: RCV001901456
• dbSNP Id: rs2141245408

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441771del , CM000677.2:g.48441771del	GRCh38
NC_000015.9:g.48733968del , CM000677.1:g.48733968del	GRCh37
NC_000015.8:g.46521260del	NCBI36
NG_008805.2:g.209018del , LRG_778:g.209018del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6113del	ENSP00000453958.2:p.Cys2038PhefsTer21
ENST00000674301.2:c.6113del	ENSP00000501333.2:p.Cys2038PhefsTer21
ENST00000316623.10:c.6113del MANE Select	ENSP00000325527.5:p.Cys2038PhefsTer21
ENST00000674301.1:c.1112del	ENSP00000501333.1:p.Cys371PhefsTer21
ENST00000316623.9:c.6113del	ENSP00000325527.5:p.Cys2038PhefsTer21
ENST00000537463.6:c.*1876del	ENSP00000440294.2:n.*1876del
ENST00000559133.5:c.1420del
ENST00000560820.1:n.233del
NM_000138.4:c.6113del , LRG_778t1:c.6113del	NP_000129.3:p.Cys2038PhefsTer21
NM_000138.5:c.6113del MANE Select	NP_000129.3:p.Cys2038PhefsTer21