Canonical Allele Identifier: CA2499222970

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1076323
• ClinVar RCV Id: RCV001390192
• dbSNP Id: rs2141232407

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430673del , CM000677.2:g.48430673del	GRCh38
NC_000015.9:g.48722870del , CM000677.1:g.48722870del	GRCh37
NC_000015.8:g.46510162del	NCBI36
NG_008805.2:g.220116del , LRG_778:g.220116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6869del	ENSP00000453958.2:p.Val2290GlufsTer?
ENST00000674301.2:c.*320del	ENSP00000501333.2:n.*320del
ENST00000682170.1:n.478del
ENST00000316623.10:c.6869del MANE Select	ENSP00000325527.5:p.Val2290GlufsTer?
ENST00000674301.1:c.1973del	ENSP00000501333.1:n.1973del
ENST00000316623.9:c.6869del	ENSP00000325527.5:p.Val2290GlufsTer?
ENST00000559133.5:c.2176del
ENST00000560720.1:n.156del
NM_000138.4:c.6869del , LRG_778t1:c.6869del	NP_000129.3:p.Val2290GlufsTer?
NM_000138.5:c.6869del MANE Select	NP_000129.3:p.Val2290GlufsTer?