Canonical Allele Identifier: CA2580089671

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1710062
• ClinVar RCV Id: RCV002290404

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488450del , CM000677.2:g.48488450del	GRCh38
NC_000015.9:g.48780647del , CM000677.1:g.48780647del	GRCh37
NC_000015.8:g.46567939del	NCBI36
NG_008805.2:g.162339del , LRG_778:g.162339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3126del	ENSP00000453958.2:p.Lys1043SerfsTer?
ENST00000674301.2:c.3126del	ENSP00000501333.2:p.Lys1043SerfsTer?
ENST00000684448.1:n.1800del
ENST00000316623.10:c.3126del MANE Select	ENSP00000325527.5:p.Lys1043SerfsTer?
ENST00000316623.9:c.3126del	ENSP00000325527.5:p.Lys1043SerfsTer?
ENST00000537463.6:c.637-13800del	ENSP00000440294.2:n.637-13800del
NM_000138.4:c.3126del , LRG_778t1:c.3126del	NP_000129.3:p.Lys1043SerfsTer?
NM_000138.5:c.3126del MANE Select	NP_000129.3:p.Lys1043SerfsTer?