Canonical Allele Identifier: CA2628333970

Gene: FBN1

Linked Data

• gnomAD v4: 15-48467844-CTCTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467848_48467852del , CM000677.2:g.48467848_48467852del	GRCh38
NC_000015.9:g.48760045_48760049del , CM000677.1:g.48760045_48760049del	GRCh37
NC_000015.8:g.46547337_46547341del	NCBI36
NG_008805.2:g.182940_182944del , LRG_778:g.182940_182944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4747+89_4747+93del	ENSP00000453958.2:n.4747+89_4747+93del
ENST00000674301.2:c.4747+89_4747+93del	ENSP00000501333.2:n.4747+89_4747+93del
ENST00000684448.1:n.3421+89_3421+93del
ENST00000316623.10:c.4747+89_4747+93del MANE Select	ENSP00000325527.5:n.4747+89_4747+93del
ENST00000316623.9:c.4747+89_4747+93del	ENSP00000325527.5:n.4747+89_4747+93del
ENST00000537463.6:c.*510+89_*510+93del	ENSP00000440294.2:n.*510+89_*510+93del
ENST00000559133.5:c.54+89_54+93del
NM_000138.4:c.4747+89_4747+93del , LRG_778t1:c.4747+89_4747+93del	NP_000129.3:n.4747+89_4747+93del
NM_000138.5:c.4747+89_4747+93del MANE Select	NP_000129.3:n.4747+89_4747+93del