Canonical Allele Identifier: CA2740096630

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2943730
• ClinVar RCV Id: RCV003803288

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441805_48441826del , CM000677.2:g.48441805_48441826del	GRCh38
NC_000015.9:g.48734002_48734023del , CM000677.1:g.48734002_48734023del	GRCh37
NC_000015.8:g.46521294_46521315del	NCBI36
NG_008805.2:g.208964_208985del , LRG_778:g.208964_208985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6059_6080del	ENSP00000453958.2:p.Glu2020AlafsTer?
ENST00000674301.2:c.6059_6080del	ENSP00000501333.2:p.Glu2020AlafsTer?
ENST00000316623.10:c.6059_6080del MANE Select	ENSP00000325527.5:p.Glu2020AlafsTer?
ENST00000674301.1:c.1058_1079del	ENSP00000501333.1:p.Glu353AlafsTer?
ENST00000316623.9:c.6059_6080del	ENSP00000325527.5:p.Glu2020AlafsTer?
ENST00000537463.6:c.*1822_*1843del	ENSP00000440294.2:n.*1822_*1843del
ENST00000559133.5:c.1366_1387del
ENST00000560820.1:n.179_200del
NM_000138.4:c.6059_6080del , LRG_778t1:c.6059_6080del	NP_000129.3:p.Glu2020AlafsTer?
NM_000138.5:c.6059_6080del MANE Select	NP_000129.3:p.Glu2020AlafsTer?