Canonical Allele Identifier: CA2175497404

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428048_48428052delinsTACAG , CM000677.2:g.48428048_48428052delinsTACAG	GRCh38
NC_000015.9:g.48720245_48720249delinsTACAG , CM000677.1:g.48720245_48720249delinsTACAG	GRCh37
NC_000015.8:g.46507537_46507541delinsTACAG	NCBI36
NG_008805.2:g.222737_222741delinsCTGTA , LRG_778:g.222737_222741delinsCTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-109_6998-105delinsCTGTA	ENSP00000453958.2:n.6998-109_6998-105delinsCTGTA
ENST00000674301.2:c.*449-109_*449-105delinsCTGTA	ENSP00000501333.2:n.*449-109_*449-105delinsCTGTA
ENST00000682170.1:n.900_904delinsCTGTA
ENST00000682767.1:n.233-109_233-105delinsCTGTA
ENST00000316623.10:c.6998-279_6998-275delinsCTGTA MANE Select	ENSP00000325527.5:n.6998-279_6998-275delinsCTGTA
ENST00000674301.1:c.2102-109_2102-105delinsCTGTA	ENSP00000501333.1:n.2102-109_2102-105delinsCTGTA
ENST00000316623.9:c.6998-279_6998-275delinsCTGTA	ENSP00000325527.5:n.6998-279_6998-275delinsCTGTA
ENST00000559133.5:c.2305-109_2305-105delinsCTGTA
ENST00000560720.1:n.578_582delinsCTGTA
NM_000138.4:c.6998-279_6998-275delinsCTGTA , LRG_778t1:c.6998-279_6998-275delinsCTGTA	NP_000129.3:n.6998-279_6998-275delinsCTGTA
NM_000138.5:c.6998-279_6998-275delinsCTGTA MANE Select	NP_000129.3:n.6998-279_6998-275delinsCTGTA