Canonical Allele Identifier: CA012482
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36038
ClinVar RCV Id: RCV000029698
dbSNP Id: rs193922182

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48510049del , CM000677.2:g.48510049del GRCh38
NC_000015.9:g.48802246del , CM000677.1:g.48802246del GRCh37
NC_000015.8:g.46589538del NCBI36
NG_008805.2:g.140740del , LRG_778:g.140740del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1709del ENSP00000453958.2:p.Cys570LeufsTer9
ENST00000674301.2:c.1709del ENSP00000501333.2:p.Cys570LeufsTer9
ENST00000684448.1:n.383del
ENST00000316623.10:c.1709del MANE Select ENSP00000325527.5:p.Cys570LeufsTer9
ENST00000316623.9:c.1709del ENSP00000325527.5:p.Cys570LeufsTer9
ENST00000537463.6:c.636+27662del ENSP00000440294.2:n.636+27662del
NM_000138.4:c.1709del , LRG_778t1:c.1709del NP_000129.3:p.Cys570LeufsTer9
NM_000138.5:c.1709del MANE Select NP_000129.3:p.Cys570LeufsTer9