Canonical Allele Identifier: CA2628329854

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422126-G-GCTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422128_48422129insTCCCT , CM000677.2:g.48422128_48422129insTCCCT	GRCh38
NC_000015.9:g.48714325_48714326insTCCCT , CM000677.1:g.48714325_48714326insTCCCT	GRCh37
NC_000015.8:g.46501617_46501618insTCCCT	NCBI36
NG_008805.2:g.228662_228663insGGAAG , LRG_778:g.228662_228663insGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-59_*262-58insGGAAG	ENSP00000453958.2:n.*262-59_*262-58insGGAAG
ENST00000674301.2:c.*967-59_*967-58insGGAAG	ENSP00000501333.2:n.*967-59_*967-58insGGAAG
ENST00000682170.1:n.1635-59_1635-58insGGAAG
ENST00000682767.1:n.751-59_751-58insGGAAG
ENST00000316623.10:c.7454-59_7454-58insGGAAG MANE Select	ENSP00000325527.5:n.7454-59_7454-58insGGAAG
ENST00000674301.1:c.2620-59_2620-58insGGAAG	ENSP00000501333.1:n.2620-59_2620-58insGGAAG
ENST00000316623.9:c.7454-59_7454-58insGGAAG	ENSP00000325527.5:n.7454-59_7454-58insGGAAG
ENST00000559133.5:c.2823-59_2823-58insGGAAG
NM_000138.4:c.7454-59_7454-58insGGAAG , LRG_778t1:c.7454-59_7454-58insGGAAG	NP_000129.3:n.7454-59_7454-58insGGAAG
NM_000138.5:c.7454-59_7454-58insGGAAG MANE Select	NP_000129.3:n.7454-59_7454-58insGGAAG