Canonical Allele Identifier: CA2175526420

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494469_48494473delinsTAAGA , CM000677.2:g.48494469_48494473delinsTAAGA	GRCh38
NC_000015.9:g.48786666_48786670delinsTAAGA , CM000677.1:g.48786666_48786670delinsTAAGA	GRCh37
NC_000015.8:g.46573958_46573962delinsTAAGA	NCBI36
NG_008805.2:g.156316_156320delinsTCTTA , LRG_778:g.156316_156320delinsTCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2678-219_2678-215delinsTCTTA	ENSP00000453958.2:n.2678-219_2678-215delinsTCTTA
ENST00000674301.2:c.2678-219_2678-215delinsTCTTA	ENSP00000501333.2:n.2678-219_2678-215delinsTCTTA
ENST00000684448.1:n.1352-219_1352-215delinsTCTTA
ENST00000316623.10:c.2678-219_2678-215delinsTCTTA MANE Select	ENSP00000325527.5:n.2678-219_2678-215delinsTCTTA
ENST00000316623.9:c.2678-219_2678-215delinsTCTTA	ENSP00000325527.5:n.2678-219_2678-215delinsTCTTA
ENST00000537463.6:c.637-19823_637-19819delinsTCTTA	ENSP00000440294.2:n.637-19823_637-19819delinsTCTTA
NM_000138.4:c.2678-219_2678-215delinsTCTTA , LRG_778t1:c.2678-219_2678-215delinsTCTTA	NP_000129.3:n.2678-219_2678-215delinsTCTTA
NM_000138.5:c.2678-219_2678-215delinsTCTTA MANE Select	NP_000129.3:n.2678-219_2678-215delinsTCTTA