Canonical Allele Identifier: CA2740096565

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2923610
• ClinVar RCV Id: RCV003783168

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428328_48428329delinsTC , CM000677.2:g.48428328_48428329delinsTC	GRCh38
NC_000015.9:g.48720525_48720526delinsTC , CM000677.1:g.48720525_48720526delinsTC	GRCh37
NC_000015.8:g.46507817_46507818delinsTC	NCBI36
NG_008805.2:g.222460_222461delinsGA , LRG_778:g.222460_222461delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6997+17_6997+18delinsGA	ENSP00000453958.2:n.6997+17_6997+18delinsGA
ENST00000674301.2:c.*448+17_*448+18delinsGA	ENSP00000501333.2:n.*448+17_*448+18delinsGA
ENST00000682170.1:n.623_624delinsGA
ENST00000682767.1:n.232+17_232+18delinsGA
ENST00000316623.10:c.6997+17_6997+18delinsGA MANE Select	ENSP00000325527.5:n.6997+17_6997+18delinsGA
ENST00000674301.1:c.2101+17_2101+18delinsGA	ENSP00000501333.1:n.2101+17_2101+18delinsGA
ENST00000316623.9:c.6997+17_6997+18delinsGA	ENSP00000325527.5:n.6997+17_6997+18delinsGA
ENST00000559133.5:c.2304+17_2304+18delinsGA
ENST00000560720.1:n.301_302delinsGA
NM_000138.4:c.6997+17_6997+18delinsGA , LRG_778t1:c.6997+17_6997+18delinsGA	NP_000129.3:n.6997+17_6997+18delinsGA
NM_000138.5:c.6997+17_6997+18delinsGA MANE Select	NP_000129.3:n.6997+17_6997+18delinsGA