Canonical Allele Identifier: CA2628333049

Gene: FBN1

Linked Data

• gnomAD v4: 15-48468142-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468145del , CM000677.2:g.48468145del	GRCh38
NC_000015.9:g.48760342del , CM000677.1:g.48760342del	GRCh37
NC_000015.8:g.46547634del	NCBI36
NG_008805.2:g.182646del , LRG_778:g.182646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4583-41del	ENSP00000453958.2:n.4583-41del
ENST00000674301.2:c.4583-41del	ENSP00000501333.2:n.4583-41del
ENST00000684448.1:n.3257-41del
ENST00000316623.10:c.4583-41del MANE Select	ENSP00000325527.5:n.4583-41del
ENST00000316623.9:c.4583-41del	ENSP00000325527.5:n.4583-41del
ENST00000537463.6:c.*346-41del	ENSP00000440294.2:n.*346-41del
NM_000138.4:c.4583-41del , LRG_778t1:c.4583-41del	NP_000129.3:n.4583-41del
NM_000138.5:c.4583-41del MANE Select	NP_000129.3:n.4583-41del