Canonical Allele Identifier: CA2628329909

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422184-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422188_48422190del , CM000677.2:g.48422188_48422190del	GRCh38
NC_000015.9:g.48714385_48714387del , CM000677.1:g.48714385_48714387del	GRCh37
NC_000015.8:g.46501677_46501679del	NCBI36
NG_008805.2:g.228602_228604del , LRG_778:g.228602_228604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-119_*262-117del	ENSP00000453958.2:n.*262-119_*262-117del
ENST00000674301.2:c.*967-119_*967-117del	ENSP00000501333.2:n.*967-119_*967-117del
ENST00000682170.1:n.1635-119_1635-117del
ENST00000682767.1:n.751-119_751-117del
ENST00000316623.10:c.7454-119_7454-117del MANE Select	ENSP00000325527.5:n.7454-119_7454-117del
ENST00000674301.1:c.2620-119_2620-117del	ENSP00000501333.1:n.2620-119_2620-117del
ENST00000316623.9:c.7454-119_7454-117del	ENSP00000325527.5:n.7454-119_7454-117del
ENST00000559133.5:c.2823-119_2823-117del
NM_000138.4:c.7454-119_7454-117del , LRG_778t1:c.7454-119_7454-117del	NP_000129.3:n.7454-119_7454-117del
NM_000138.5:c.7454-119_7454-117del MANE Select	NP_000129.3:n.7454-119_7454-117del