Canonical Allele Identifier: CA017585

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412621_48412640del , CM000677.2:g.48412621_48412640del	GRCh38
NC_000015.9:g.48704818_48704837del , CM000677.1:g.48704818_48704837del	GRCh37
NC_000015.8:g.46492110_46492129del	NCBI36
NG_008805.2:g.238150_238169del , LRG_778:g.238150_238169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*964_*983del	ENSP00000453958.2:n.*964_*983del
ENST00000674301.2:c.*1669_*1688del	ENSP00000501333.2:n.*1669_*1688del
ENST00000682158.1:n.1537_1556del
ENST00000682170.1:n.2337_2356del
ENST00000682767.1:n.1453_1472del
ENST00000316623.10:c.8156_8175del MANE Select	ENSP00000325527.5:p.Lys2719ThrfsTer12
ENST00000674301.1:c.3322_3341del	ENSP00000501333.1:n.3322_3341del
ENST00000316623.9:c.8156_8175del	ENSP00000325527.5:p.Lys2719ThrfsTer12
ENST00000559133.5:c.3525_3544del
ENST00000561429.1:n.411_430del
NM_000138.4:c.8156_8175del , LRG_778t1:c.8156_8175del	NP_000129.3:p.Lys2719ThrfsTer12
NM_000138.5:c.8156_8175del MANE Select	NP_000129.3:p.Lys2719ThrfsTer12