Canonical Allele Identifier: CA1139663910
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 915813
ClinVar RCV Id: RCV001171252
dbSNP Id: rs2043594458
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48495134dup , CM000677.2:g.48495134dup GRCh38
NC_000015.9:g.48787331dup , CM000677.1:g.48787331dup GRCh37
NC_000015.8:g.46574623dup NCBI36
NG_008805.2:g.155655dup , LRG_778:g.155655dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2666dup ENSP00000453958.2:p.Cys890MetfsTer4
ENST00000674301.2:c.2666dup ENSP00000501333.2:p.Cys890MetfsTer4
ENST00000684448.1:n.1340dup
ENST00000316623.10:c.2666dup MANE Select ENSP00000325527.5:p.Cys890MetfsTer4
ENST00000316623.9:c.2666dup ENSP00000325527.5:p.Cys890MetfsTer4
ENST00000537463.6:c.637-20484dup ENSP00000440294.2:n.637-20484dup
NM_000138.4:c.2666dup , LRG_778t1:c.2666dup NP_000129.3:p.Cys890MetfsTer4
NM_000138.5:c.2666dup MANE Select NP_000129.3:p.Cys890MetfsTer4
Search 100 bp 5'
Search 100 bp 3'