Canonical Allele Identifier: CA2580613819
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2110714
ClinVar RCV Id: RCV003032209
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474288_48474291del , CM000677.2:g.48474288_48474291del GRCh38
NC_000015.9:g.48766485_48766488del , CM000677.1:g.48766485_48766488del GRCh37
NC_000015.8:g.46553777_46553780del NCBI36
NG_008805.2:g.176503_176506del , LRG_778:g.176503_176506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4179_4182del ENSP00000453958.2:p.Glu1393AspfsTer19
ENST00000674301.2:c.4179_4182del ENSP00000501333.2:p.Glu1393AspfsTer19
ENST00000684448.1:n.2853_2856del
ENST00000316623.10:c.4179_4182del MANE Select ENSP00000325527.5:p.Glu1393AspfsTer19
ENST00000316623.9:c.4179_4182del ENSP00000325527.5:p.Glu1393AspfsTer19
ENST00000537463.6:c.851_854del ENSP00000440294.2:p.Lys284IlefsTer4
NM_000138.4:c.4179_4182del , LRG_778t1:c.4179_4182del NP_000129.3:p.Glu1393AspfsTer19
NM_000138.5:c.4179_4182del MANE Select NP_000129.3:p.Glu1393AspfsTer19
Search 100 bp 5'
Search 100 bp 3'