Canonical Allele Identifier: CA2628329908

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422184-A-ACT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422184_48422185insCT , CM000677.2:g.48422184_48422185insCT	GRCh38
NC_000015.9:g.48714381_48714382insCT , CM000677.1:g.48714381_48714382insCT	GRCh37
NC_000015.8:g.46501673_46501674insCT	NCBI36
NG_008805.2:g.228604_228605insAG , LRG_778:g.228604_228605insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-117_*262-116insAG	ENSP00000453958.2:n.*262-117_*262-116insAG
ENST00000674301.2:c.*967-117_*967-116insAG	ENSP00000501333.2:n.*967-117_*967-116insAG
ENST00000682170.1:n.1635-117_1635-116insAG
ENST00000682767.1:n.751-117_751-116insAG
ENST00000316623.10:c.7454-117_7454-116insAG MANE Select	ENSP00000325527.5:n.7454-117_7454-116insAG
ENST00000674301.1:c.2620-117_2620-116insAG	ENSP00000501333.1:n.2620-117_2620-116insAG
ENST00000316623.9:c.7454-117_7454-116insAG	ENSP00000325527.5:n.7454-117_7454-116insAG
ENST00000559133.5:c.2823-117_2823-116insAG
NM_000138.4:c.7454-117_7454-116insAG , LRG_778t1:c.7454-117_7454-116insAG	NP_000129.3:n.7454-117_7454-116insAG
NM_000138.5:c.7454-117_7454-116insAG MANE Select	NP_000129.3:n.7454-117_7454-116insAG