Canonical Allele Identifier: CA1139663953
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 977687
ClinVar RCV Id: RCV001255474
dbSNP Id: rs2043386417
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472644dup , CM000677.2:g.48472644dup GRCh38
NC_000015.9:g.48764841dup , CM000677.1:g.48764841dup GRCh37
NC_000015.8:g.46552133dup NCBI36
NG_008805.2:g.178145dup , LRG_778:g.178145dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4243dup ENSP00000453958.2:p.Cys1415LeufsTer16
ENST00000674301.2:c.4243dup ENSP00000501333.2:p.Cys1415LeufsTer16
ENST00000683268.1:n.210dup
ENST00000684448.1:n.2917dup
ENST00000316623.10:c.4243dup MANE Select ENSP00000325527.5:p.Cys1415LeufsTer16
ENST00000316623.9:c.4243dup ENSP00000325527.5:p.Cys1415LeufsTer16
ENST00000537463.6:c.*6dup ENSP00000440294.2:n.*6dup
NM_000138.4:c.4243dup , LRG_778t1:c.4243dup NP_000129.3:p.Cys1415LeufsTer16
NM_000138.5:c.4243dup MANE Select NP_000129.3:p.Cys1415LeufsTer16
Search 100 bp 5'
Search 100 bp 3'