Canonical Allele Identifier: CA490118901
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925529
ClinVar RCV Id: RCV003783623
MyVariant Identifiers: chr15:g.48703312del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411117del , CM000677.2:g.48411117del GRCh38
NC_000015.9:g.48703314del , CM000677.1:g.48703314del GRCh37
NC_000015.8:g.46490606del NCBI36
NG_008805.2:g.239674del , LRG_778:g.239674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1299del ENSP00000453958.2:n.*1299del
ENST00000674301.2:c.*2004del ENSP00000501333.2:n.*2004del
ENST00000682158.1:n.1872del
ENST00000682170.1:n.2672del
ENST00000682767.1:n.1788del
ENST00000316623.10:c.8491del MANE Select ENSP00000325527.5:p.Ile2831SerfsTer15
ENST00000674301.1:c.3657del ENSP00000501333.1:n.3657del
ENST00000316623.9:c.8491del ENSP00000325527.5:p.Ile2831SerfsTer15
ENST00000559133.5:c.3860del
NM_000138.4:c.8491del , LRG_778t1:c.8491del NP_000129.3:p.Ile2831SerfsTer15
NM_000138.5:c.8491del MANE Select NP_000129.3:p.Ile2831SerfsTer15
Search 100 bp 5'
Search 100 bp 3'