Canonical Allele Identifier: CA2580089652

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2500826
• ClinVar RCV Id: RCV003226011

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6151dup	ENSP00000453958.2:p.Arg2051LysfsTer16
ENST00000674301.2:c.6151dup	ENSP00000501333.2:p.Arg2051LysfsTer16
ENST00000316623.10:c.6151dup MANE Select	ENSP00000325527.5:p.Arg2051LysfsTer16
ENST00000674301.1:c.1150dup	ENSP00000501333.1:p.Arg384LysfsTer16
ENST00000316623.9:c.6151dup	ENSP00000325527.5:p.Arg2051LysfsTer16
ENST00000537463.6:c.*1914dup	ENSP00000440294.2:n.*1914dup
ENST00000559133.5:c.1458dup
ENST00000560820.1:n.271dup
NM_000138.4:c.6151dup , LRG_778t1:c.6151dup	NP_000129.3:p.Arg2051LysfsTer16
NM_000138.5:c.6151dup MANE Select	NP_000129.3:p.Arg2051LysfsTer16