Canonical Allele Identifier: CA016675
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36105
ClinVar RCV Id: RCV000029767
dbSNP Id: rs193922226
MyVariant Identifiers: chr15:g.48725098del (hg19) chr15:g.48432901del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48432903del , CM000677.2:g.48432903del GRCh38
NC_000015.9:g.48725100del , CM000677.1:g.48725100del GRCh37
NC_000015.8:g.46512392del NCBI36
NG_008805.2:g.217888del , LRG_778:g.217888del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6704del ENSP00000453958.2:p.Gly2235AspfsTer?
ENST00000674301.2:c.*155del ENSP00000501333.2:n.*155del
ENST00000682170.1:n.313del
ENST00000316623.10:c.6704del MANE Select ENSP00000325527.5:p.Gly2235AspfsTer?
ENST00000674301.1:c.1808del ENSP00000501333.1:n.1808del
ENST00000316623.9:c.6704del ENSP00000325527.5:p.Gly2235AspfsTer?
ENST00000537463.6:c.*2467del ENSP00000440294.2:n.*2467del
ENST00000559133.5:c.2011del
NM_000138.4:c.6704del , LRG_778t1:c.6704del NP_000129.3:p.Gly2235AspfsTer?
NM_000138.5:c.6704del MANE Select NP_000129.3:p.Gly2235AspfsTer?
Search 100 bp 5'
Search 100 bp 3'