Canonical Allele Identifier: CA2499223010
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1071634
ClinVar RCV Id: RCV001384148
dbSNP Id: rs2141321558
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48508629del , CM000677.2:g.48508629del GRCh38
NC_000015.9:g.48800826del , CM000677.1:g.48800826del GRCh37
NC_000015.8:g.46588118del NCBI36
NG_008805.2:g.142162del , LRG_778:g.142162del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1792del ENSP00000453958.2:p.Cys598AlafsTer27
ENST00000674301.2:c.1792del ENSP00000501333.2:p.Cys598AlafsTer27
ENST00000684448.1:n.466del
ENST00000316623.10:c.1792del MANE Select ENSP00000325527.5:p.Cys598AlafsTer27
ENST00000316623.9:c.1792del ENSP00000325527.5:p.Cys598AlafsTer27
ENST00000537463.6:c.636+29084del ENSP00000440294.2:n.636+29084del
NM_000138.4:c.1792del , LRG_778t1:c.1792del NP_000129.3:p.Cys598AlafsTer27
NM_000138.5:c.1792del MANE Select NP_000129.3:p.Cys598AlafsTer27
Search 100 bp 5'
Search 100 bp 3'