Canonical Allele Identifier: CA2573150910

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1325458
• ClinVar RCV Id: RCV002246070
• dbSNP Id: rs2141209520

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411045_48411052delinsGTGATA , CM000677.2:g.48411045_48411052delinsGTGATA	GRCh38
NC_000015.9:g.48703242_48703249delinsGTGATA , CM000677.1:g.48703242_48703249delinsGTGATA	GRCh37
NC_000015.8:g.46490534_46490541delinsGTGATA	NCBI36
NG_008805.2:g.239737_239744delinsTATCAC , LRG_778:g.239737_239744delinsTATCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1362_*1369delinsTATCAC	ENSP00000453958.2:n.*1362_*1369delinsTATC...
ENST00000682158.1:n.1935_1942delinsTATCAC
ENST00000682170.1:n.2735_2742delinsTATCAC
ENST00000682767.1:n.1851_1858delinsTATCAC
ENST00000316623.10:c.8554_8561delinsTATCAC MANE Select	ENSP00000325527.5:p.Asp2852TyrfsTer5
ENST00000316623.9:c.8554_8561delinsTATCAC	ENSP00000325527.5:p.Asp2852TyrfsTer5
ENST00000559133.5:c.3923_3930delinsTATCAC
NM_000138.4:c.8554_8561delinsTATCAC , LRG_778t1:c.8554_8561delinsTATCAC	NP_000129.3:p.Asp2852TyrfsTer5
NM_000138.5:c.8554_8561delinsTATCAC MANE Select	NP_000129.3:p.Asp2852TyrfsTer5