Canonical Allele Identifier: CA2580089583
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2081268
ClinVar RCV Id: RCV002994153
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503882_48503891delinsAGCACCAA , CM000677.2:g.48503882_48503891delinsAGCACCAA GRCh38
NC_000015.9:g.48796079_48796088delinsAGCACCAA , CM000677.1:g.48796079_48796088delinsAGCACCAA GRCh37
NC_000015.8:g.46583371_46583380delinsAGCACCAA NCBI36
NG_008805.2:g.146898_146907delinsTTGGTGCT , LRG_778:g.146898_146907delinsTTGGTGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2009_2018delinsTTGGTGCT ENSP00000453958.2:p.Cys670PhefsTer10
ENST00000674301.2:c.2009_2018delinsTTGGTGCT ENSP00000501333.2:p.Cys670PhefsTer10
ENST00000684448.1:n.683_692delinsTTGGTGCT
ENST00000316623.10:c.2009_2018delinsTTGGTGCT MANE Select ENSP00000325527.5:p.Cys670PhefsTer10
ENST00000316623.9:c.2009_2018delinsTTGGTGCT ENSP00000325527.5:p.Cys670PhefsTer10
ENST00000537463.6:c.637-29241_637-29232delinsTTGGTGCT ENSP00000440294.2:n.637-29241_637-29232delinsTTGGTGCT
NM_000138.4:c.2009_2018delinsTTGGTGCT , LRG_778t1:c.2009_2018delinsTTGGTGCT NP_000129.3:p.Cys670PhefsTer10
NM_000138.5:c.2009_2018delinsTTGGTGCT MANE Select NP_000129.3:p.Cys670PhefsTer10
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