Canonical Allele Identifier: CA2580089585
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2014484
ClinVar RCV Id: RCV002830060
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485425dup , CM000677.2:g.48485425dup GRCh38
NC_000015.9:g.48777622dup , CM000677.1:g.48777622dup GRCh37
NC_000015.8:g.46564914dup NCBI36
NG_008805.2:g.165364dup , LRG_778:g.165364dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3661dup ENSP00000453958.2:p.Cys1221LeufsTer2
ENST00000674301.2:c.3661dup ENSP00000501333.2:p.Cys1221LeufsTer2
ENST00000684448.1:n.2335dup
ENST00000316623.10:c.3661dup MANE Select ENSP00000325527.5:p.Cys1221LeufsTer2
ENST00000316623.9:c.3661dup ENSP00000325527.5:p.Cys1221LeufsTer2
ENST00000537463.6:c.637-10775dup ENSP00000440294.2:n.637-10775dup
NM_000138.4:c.3661dup , LRG_778t1:c.3661dup NP_000129.3:p.Cys1221LeufsTer2
NM_000138.5:c.3661dup MANE Select NP_000129.3:p.Cys1221LeufsTer2
Search 100 bp 5'
Search 100 bp 3'