Canonical Allele Identifier: CA2573150948
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325457
ClinVar RCV Id: RCV002246069
dbSNP Id: rs2141214634
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415578del , CM000677.2:g.48415578del GRCh38
NC_000015.9:g.48707775del , CM000677.1:g.48707775del GRCh37
NC_000015.8:g.46495067del NCBI36
NG_008805.2:g.235211del , LRG_778:g.235211del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*817del ENSP00000453958.2:n.*817del
ENST00000674301.2:c.*1522del ENSP00000501333.2:n.*1522del
ENST00000682158.1:n.1390del
ENST00000682170.1:n.2190del
ENST00000682767.1:n.1306del
ENST00000316623.10:c.8009del MANE Select ENSP00000325527.5:p.Tyr2670SerfsTer12
ENST00000674301.1:c.3175del ENSP00000501333.1:n.3175del
ENST00000316623.9:c.8009del ENSP00000325527.5:p.Tyr2670SerfsTer12
ENST00000559133.5:c.3378del
ENST00000561429.1:n.264del
NM_000138.4:c.8009del , LRG_778t1:c.8009del NP_000129.3:p.Tyr2670SerfsTer12
NM_000138.5:c.8009del MANE Select NP_000129.3:p.Tyr2670SerfsTer12
Search 100 bp 5'
Search 100 bp 3'