Canonical Allele Identifier: CA2580089687

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2075265
• ClinVar RCV Id: RCV002963408

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428341dup , CM000677.2:g.48428341dup	GRCh38
NC_000015.9:g.48720538dup , CM000677.1:g.48720538dup	GRCh37
NC_000015.8:g.46507830dup	NCBI36
NG_008805.2:g.222448dup , LRG_778:g.222448dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6997+5dup	ENSP00000453958.2:n.6997+5dup
ENST00000674301.2:c.*448+5dup	ENSP00000501333.2:n.*448+5dup
ENST00000682170.1:n.611dup
ENST00000682767.1:n.232+5dup
ENST00000316623.10:c.6997+5dup MANE Select	ENSP00000325527.5:n.6997+5dup
ENST00000674301.1:c.2101+5dup	ENSP00000501333.1:n.2101+5dup
ENST00000316623.9:c.6997+5dup	ENSP00000325527.5:n.6997+5dup
ENST00000559133.5:c.2304+5dup
ENST00000560720.1:n.289dup
NM_000138.4:c.6997+5dup , LRG_778t1:c.6997+5dup	NP_000129.3:n.6997+5dup
NM_000138.5:c.6997+5dup MANE Select	NP_000129.3:n.6997+5dup