Canonical Allele Identifier: CA915945981

Gene: FBN1

Linked Data

• ClinVar Variation Id: 638269
• ClinVar RCV Id: RCV000790847
• dbSNP Id: rs1597529829

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441816dup , CM000677.2:g.48441816dup	GRCh38
NC_000015.9:g.48734013dup , CM000677.1:g.48734013dup	GRCh37
NC_000015.8:g.46521305dup	NCBI36
NG_008805.2:g.208975dup , LRG_778:g.208975dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6070dup	ENSP00000453958.2:p.Cys2024LeufsTer8
ENST00000674301.2:c.6070dup	ENSP00000501333.2:p.Cys2024LeufsTer8
ENST00000316623.10:c.6070dup MANE Select	ENSP00000325527.5:p.Cys2024LeufsTer8
ENST00000674301.1:c.1069dup	ENSP00000501333.1:p.Cys357LeufsTer8
ENST00000316623.9:c.6070dup	ENSP00000325527.5:p.Cys2024LeufsTer8
ENST00000537463.6:c.*1833dup	ENSP00000440294.2:n.*1833dup
ENST00000559133.5:c.1377dup
ENST00000560820.1:n.190dup
NM_000138.4:c.6070dup , LRG_778t1:c.6070dup	NP_000129.3:p.Cys2024LeufsTer8
NM_000138.5:c.6070dup MANE Select	NP_000129.3:p.Cys2024LeufsTer8