Canonical Allele Identifier: CA2695220192

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441734del , CM000677.2:g.48441734del	GRCh38
NC_000015.9:g.48733931del , CM000677.1:g.48733931del	GRCh37
NC_000015.8:g.46521223del	NCBI36
NG_008805.2:g.209056del , LRG_778:g.209056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6151del	ENSP00000453958.2:p.Arg2051GlufsTer8
ENST00000674301.2:c.6151del	ENSP00000501333.2:p.Arg2051GlufsTer8
ENST00000316623.10:c.6151del MANE Select	ENSP00000325527.5:p.Arg2051GlufsTer8
ENST00000674301.1:c.1150del	ENSP00000501333.1:p.Arg384GlufsTer8
ENST00000316623.9:c.6151del	ENSP00000325527.5:p.Arg2051GlufsTer8
ENST00000537463.6:c.*1914del	ENSP00000440294.2:n.*1914del
ENST00000559133.5:c.1458del
ENST00000560820.1:n.271del
NM_000138.4:c.6151del , LRG_778t1:c.6151del	NP_000129.3:p.Arg2051GlufsTer8
NM_000138.5:c.6151del MANE Select	NP_000129.3:p.Arg2051GlufsTer8