Canonical Allele Identifier: CA2628331257

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428082-GATCCTGATCACCAAGGGCTTCAAAGGCAGCCAAGAAATTCCAAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428084_48428128del , CM000677.2:g.48428084_48428128del	GRCh38
NC_000015.9:g.48720281_48720325del , CM000677.1:g.48720281_48720325del	GRCh37
NC_000015.8:g.46507573_46507617del	NCBI36
NG_008805.2:g.222662_222706del , LRG_778:g.222662_222706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-184_6998-140del	ENSP00000453958.2:n.6998-184_6998-140del
ENST00000674301.2:c.*449-184_*449-140del	ENSP00000501333.2:n.*449-184_*449-140del
ENST00000682170.1:n.825_869del
ENST00000682767.1:n.233-184_233-140del
ENST00000316623.10:c.6997+219_6997+263del MANE Select	ENSP00000325527.5:n.6997+219_6997+263del
ENST00000674301.1:c.2102-184_2102-140del	ENSP00000501333.1:n.2102-184_2102-140del
ENST00000316623.9:c.6997+219_6997+263del	ENSP00000325527.5:n.6997+219_6997+263del
ENST00000559133.5:c.2305-184_2305-140del
ENST00000560720.1:n.503_547del
NM_000138.4:c.6997+219_6997+263del , LRG_778t1:c.6997+219_6997+263del	NP_000129.3:n.6997+219_6997+263del
NM_000138.5:c.6997+219_6997+263del MANE Select	NP_000129.3:n.6997+219_6997+263del