Canonical Allele Identifier: CA2175486949

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411492_48411493delinsGC , CM000677.2:g.48411492_48411493delinsGC	GRCh38
NC_000015.9:g.48703689_48703690delinsGC , CM000677.1:g.48703689_48703690delinsGC	GRCh37
NC_000015.8:g.46490981_46490982delinsGC	NCBI36
NG_008805.2:g.239296_239297delinsGC , LRG_778:g.239296_239297delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-114_*1035-113delinsGC	ENSP00000453958.2:n.*1035-114_*1035-113delinsGC
ENST00000674301.2:c.*1740-114_*1740-113delinsGC	ENSP00000501333.2:n.*1740-114_*1740-113delinsGC
ENST00000682158.1:n.1608-114_1608-113delinsGC
ENST00000682170.1:n.2408-114_2408-113delinsGC
ENST00000682767.1:n.1524-114_1524-113delinsGC
ENST00000316623.10:c.8227-114_8227-113delinsGC MANE Select	ENSP00000325527.5:n.8227-114_8227-113delinsGC
ENST00000674301.1:c.3393-114_3393-113delinsGC	ENSP00000501333.1:n.3393-114_3393-113delinsGC
ENST00000316623.9:c.8227-114_8227-113delinsGC	ENSP00000325527.5:n.8227-114_8227-113delinsGC
ENST00000559133.5:c.3596-114_3596-113delinsGC
ENST00000561429.1:n.482-114_482-113delinsGC
NM_000138.4:c.8227-114_8227-113delinsGC , LRG_778t1:c.8227-114_8227-113delinsGC	NP_000129.3:n.8227-114_8227-113delinsGC
NM_000138.5:c.8227-114_8227-113delinsGC MANE Select	NP_000129.3:n.8227-114_8227-113delinsGC