Canonical Allele Identifier: CA2580089586
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2002802
ClinVar RCV Id: RCV002824867
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520739dup , CM000677.2:g.48520739dup GRCh38
NC_000015.9:g.48812936dup , CM000677.1:g.48812936dup GRCh37
NC_000015.8:g.46600228dup NCBI36
NG_008805.2:g.130050dup , LRG_778:g.130050dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1067dup ENSP00000453958.2:p.Met356IlefsTer6
ENST00000674301.2:c.1067dup ENSP00000501333.2:p.Met356IlefsTer6
ENST00000316623.10:c.1067dup MANE Select ENSP00000325527.5:p.Met356IlefsTer6
ENST00000316623.9:c.1067dup ENSP00000325527.5:p.Met356IlefsTer6
ENST00000537463.6:c.636+16972dup ENSP00000440294.2:n.636+16972dup
NM_000138.4:c.1067dup , LRG_778t1:c.1067dup NP_000129.3:p.Met356IlefsTer6
NM_000138.5:c.1067dup MANE Select NP_000129.3:p.Met356IlefsTer6
Search 100 bp 5'
Search 100 bp 3'