Canonical Allele Identifier: CA2573150909
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1427976
ClinVar RCV Id: RCV001964756
dbSNP Id: rs2141209492
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411032del , CM000677.2:g.48411032del GRCh38
NC_000015.9:g.48703229del , CM000677.1:g.48703229del GRCh37
NC_000015.8:g.46490521del NCBI36
NG_008805.2:g.239759del , LRG_778:g.239759del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1384del ENSP00000453958.2:n.*1384del
ENST00000682158.1:n.1957del
ENST00000682170.1:n.2757del
ENST00000682767.1:n.1873del
ENST00000316623.10:c.8576del MANE Select ENSP00000325527.5:p.Gly2859ValfsTer4
ENST00000316623.9:c.8576del ENSP00000325527.5:p.Gly2859ValfsTer4
ENST00000559133.5:c.3945del
NM_000138.4:c.8576del , LRG_778t1:c.8576del NP_000129.3:p.Gly2859ValfsTer4
NM_000138.5:c.8576del MANE Select NP_000129.3:p.Gly2859ValfsTer4
Search 100 bp 5'
Search 100 bp 3'