Canonical Allele Identifier: CA10576034

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412614_48412621del , CM000677.2:g.48412614_48412621del	GRCh38
NC_000015.9:g.48704811_48704818del , CM000677.1:g.48704811_48704818del	GRCh37
NC_000015.8:g.46492103_46492110del	NCBI36
NG_008805.2:g.238169_238176del , LRG_778:g.238169_238176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*983_*990del	ENSP00000453958.2:n.*983_*990del
ENST00000674301.2:c.*1688_*1695del	ENSP00000501333.2:n.*1688_*1695del
ENST00000682158.1:n.1556_1563del
ENST00000682170.1:n.2356_2363del
ENST00000682767.1:n.1472_1479del
ENST00000316623.10:c.8175_8182del MANE Select	ENSP00000325527.5:p.Arg2726GlufsTer9
ENST00000674301.1:c.3341_3348del	ENSP00000501333.1:n.3341_3348del
ENST00000316623.9:c.8175_8182del	ENSP00000325527.5:p.Arg2726GlufsTer9
ENST00000559133.5:c.3544_3551del
ENST00000561429.1:n.430_437del
NM_000138.4:c.8175_8182del , LRG_778t1:c.8175_8182del	NP_000129.3:p.Arg2726GlufsTer9
NM_000138.5:c.8175_8182del MANE Select	NP_000129.3:p.Arg2726GlufsTer9