Canonical Allele Identifier: CA2628325075

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411456-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411458_48411459del , CM000677.2:g.48411458_48411459del	GRCh38
NC_000015.9:g.48703655_48703656del , CM000677.1:g.48703655_48703656del	GRCh37
NC_000015.8:g.46490947_46490948del	NCBI36
NG_008805.2:g.239331_239332del , LRG_778:g.239331_239332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-79_*1035-78del	ENSP00000453958.2:n.*1035-79_*1035-78del
ENST00000674301.2:c.*1740-79_*1740-78del	ENSP00000501333.2:n.*1740-79_*1740-78del
ENST00000682158.1:n.1608-79_1608-78del
ENST00000682170.1:n.2408-79_2408-78del
ENST00000682767.1:n.1524-79_1524-78del
ENST00000316623.10:c.8227-79_8227-78del MANE Select	ENSP00000325527.5:n.8227-79_8227-78del
ENST00000674301.1:c.3393-79_3393-78del	ENSP00000501333.1:n.3393-79_3393-78del
ENST00000316623.9:c.8227-79_8227-78del	ENSP00000325527.5:n.8227-79_8227-78del
ENST00000559133.5:c.3596-79_3596-78del
ENST00000561429.1:n.482-79_482-78del
NM_000138.4:c.8227-79_8227-78del , LRG_778t1:c.8227-79_8227-78del	NP_000129.3:n.8227-79_8227-78del
NM_000138.5:c.8227-79_8227-78del MANE Select	NP_000129.3:n.8227-79_8227-78del