Canonical Allele Identifier: CA913190350

Gene: FBN1

Linked Data

• ClinVar Variation Id: 625124
• ClinVar RCV Id: RCV000766251 ; RCV001267979
• dbSNP Id: rs1566898399

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445388del , CM000677.2:g.48445388del	GRCh38
NC_000015.9:g.48737585del , CM000677.1:g.48737585del	GRCh37
NC_000015.8:g.46524877del	NCBI36
NG_008805.2:g.205401del , LRG_778:g.205401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5905del	ENSP00000453958.2:p.Arg1969GlyfsTer11
ENST00000674301.2:c.5905del	ENSP00000501333.2:p.Arg1969GlyfsTer11
ENST00000684448.1:n.4579del
ENST00000316623.10:c.5905del MANE Select	ENSP00000325527.5:p.Arg1969GlyfsTer11
ENST00000674301.1:c.904del	ENSP00000501333.1:p.Arg302GlyfsTer11
ENST00000316623.9:c.5905del	ENSP00000325527.5:p.Arg1969GlyfsTer11
ENST00000537463.6:c.*1668del	ENSP00000440294.2:n.*1668del
ENST00000559133.5:c.1212del
ENST00000560820.1:n.25del
NM_000138.4:c.5905del , LRG_778t1:c.5905del	NP_000129.3:p.Arg1969GlyfsTer11
NM_000138.5:c.5905del MANE Select	NP_000129.3:p.Arg1969GlyfsTer11