Canonical Allele Identifier: CA2628329935

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422211-A-AATCGCTACAATCCATGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422211_48422212insATCGCTACAATCCATGTAG , CM000677.2:g.48422211_48422212insATCGCTACAATCCATGTAG	GRCh38
NC_000015.9:g.48714408_48714409insATCGCTACAATCCATGTAG , CM000677.1:g.48714408_48714409insATCGCTACAATCCATGTAG	GRCh37
NC_000015.8:g.46501700_46501701insATCGCTACAATCCATGTAG	NCBI36
NG_008805.2:g.228577_228578insCTACATGGATTGTAGCGAT , LRG_778:g.228577_228578insCTACATGGATTGTAGCGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-144_*262-143insCTACATGGATTGTAGCGAT	ENSP00000453958.2:n.*262-144_*262-143insCTACATGGATTGTAGCGAT
ENST00000674301.2:c.*967-144_*967-143insCTACATGGATTGTAGCGAT	ENSP00000501333.2:n.*967-144_*967-143insCTACATGGATTGTAGCGAT
ENST00000682170.1:n.1635-144_1635-143insCTACATGGATTGTAGCGAT
ENST00000682767.1:n.751-144_751-143insCTACATGGATTGTAGCGAT
ENST00000316623.10:c.7454-144_7454-143insCTACATGGATTGTAGCGAT MANE Select	ENSP00000325527.5:n.7454-144_7454-143insCTACATGGATTGTAGCGAT
ENST00000674301.1:c.2620-144_2620-143insCTACATGGATTGTAGCGAT	ENSP00000501333.1:n.2620-144_2620-143insCTACATGGATTGTAGCGAT
ENST00000316623.9:c.7454-144_7454-143insCTACATGGATTGTAGCGAT	ENSP00000325527.5:n.7454-144_7454-143insCTACATGGATTGTAGCGAT
ENST00000559133.5:c.2823-144_2823-143insCTACATGGATTGTAGCGAT
NM_000138.4:c.7454-144_7454-143insCTACATGGATTGTAGCGAT , LRG_778t1:c.7454-144_7454-143insCTACATGGATTGTAGCGAT	NP_000129.3:n.7454-144_7454-143insCTACATGGATTGTAGCGAT
NM_000138.5:c.7454-144_7454-143insCTACATGGATTGTAGCGAT MANE Select	NP_000129.3:n.7454-144_7454-143insCTACATGGATTGTAGCGAT