Canonical Allele Identifier: CA2695220344

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488431del , CM000677.2:g.48488431del	GRCh38
NC_000015.9:g.48780628del , CM000677.1:g.48780628del	GRCh37
NC_000015.8:g.46567920del	NCBI36
NG_008805.2:g.162359del , LRG_778:g.162359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3146del	ENSP00000453958.2:p.Gly1049AlafsTer?
ENST00000674301.2:c.3146del	ENSP00000501333.2:p.Gly1049AlafsTer?
ENST00000684448.1:n.1820del
ENST00000316623.10:c.3146del MANE Select	ENSP00000325527.5:p.Gly1049AlafsTer?
ENST00000316623.9:c.3146del	ENSP00000325527.5:p.Gly1049AlafsTer?
ENST00000537463.6:c.637-13780del	ENSP00000440294.2:n.637-13780del
NM_000138.4:c.3146del , LRG_778t1:c.3146del	NP_000129.3:p.Gly1049AlafsTer?
NM_000138.5:c.3146del MANE Select	NP_000129.3:p.Gly1049AlafsTer?