Canonical Allele Identifier: CA2628329843

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422119-CAGGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422122_48422126del , CM000677.2:g.48422122_48422126del	GRCh38
NC_000015.9:g.48714319_48714323del , CM000677.1:g.48714319_48714323del	GRCh37
NC_000015.8:g.46501611_46501615del	NCBI36
NG_008805.2:g.228665_228669del , LRG_778:g.228665_228669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-56_*262-52del	ENSP00000453958.2:n.*262-56_*262-52del
ENST00000674301.2:c.*967-56_*967-52del	ENSP00000501333.2:n.*967-56_*967-52del
ENST00000682170.1:n.1635-56_1635-52del
ENST00000682767.1:n.751-56_751-52del
ENST00000316623.10:c.7454-56_7454-52del MANE Select	ENSP00000325527.5:n.7454-56_7454-52del
ENST00000674301.1:c.2620-56_2620-52del	ENSP00000501333.1:n.2620-56_2620-52del
ENST00000316623.9:c.7454-56_7454-52del	ENSP00000325527.5:n.7454-56_7454-52del
ENST00000559133.5:c.2823-56_2823-52del
NM_000138.4:c.7454-56_7454-52del , LRG_778t1:c.7454-56_7454-52del	NP_000129.3:n.7454-56_7454-52del
NM_000138.5:c.7454-56_7454-52del MANE Select	NP_000129.3:n.7454-56_7454-52del