Canonical Allele Identifier: CA915946650

Gene: FBN1

Linked Data

• ClinVar Variation Id: 803081
• ClinVar RCV Id: RCV000989314
• dbSNP Id: rs1597529686

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441736del , CM000677.2:g.48441736del	GRCh38
NC_000015.9:g.48733933del , CM000677.1:g.48733933del	GRCh37
NC_000015.8:g.46521225del	NCBI36
NG_008805.2:g.209054del , LRG_778:g.209054del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6149del	ENSP00000453958.2:p.Gly2050GlufsTer9
ENST00000674301.2:c.6149del	ENSP00000501333.2:p.Gly2050GlufsTer9
ENST00000316623.10:c.6149del MANE Select	ENSP00000325527.5:p.Gly2050GlufsTer9
ENST00000674301.1:c.1148del	ENSP00000501333.1:p.Gly383GlufsTer9
ENST00000316623.9:c.6149del	ENSP00000325527.5:p.Gly2050GlufsTer9
ENST00000537463.6:c.*1912del	ENSP00000440294.2:n.*1912del
ENST00000559133.5:c.1456del
ENST00000560820.1:n.269del
NM_000138.4:c.6149del , LRG_778t1:c.6149del	NP_000129.3:p.Gly2050GlufsTer9
NM_000138.5:c.6149del MANE Select	NP_000129.3:p.Gly2050GlufsTer9