Canonical Allele Identifier: CA2175494985
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474265_48474288delinsGAAGCCATCACCTGTGTATCCTTC , CM000677.2:g.48474265_48474288delinsGAAGCCATCACCTGTGTATCCTTC GRCh38
NC_000015.9:g.48766462_48766485delinsGAAGCCATCACCTGTGTATCCTTC , CM000677.1:g.48766462_48766485delinsGAAGCCATCACCTGTGTATCCTTC GRCh37
NC_000015.8:g.46553754_46553777delinsGAAGCCATCACCTGTGTATCCTTC NCBI36
NG_008805.2:g.176501_176524delinsGAAGGATACACAGGTGATGGCTTC , LRG_778:g.176501_176524delinsGAAGGATACACAGGTGATGGCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4177_4200delinsGAAGGATACACAGGTGATGGCTTC ENSP00000453958.2:p.Glu1393=
ENST00000674301.2:c.4177_4200delinsGAAGGATACACAGGTGATGGCTTC ENSP00000501333.2:p.Glu1393=
ENST00000684448.1:n.2851_2874delinsGAAGGATACACAGGTGATGGCTTC
ENST00000316623.10:c.4177_4200delinsGAAGGATACACAGGTGATGGCTTC MANE Select ENSP00000325527.5:p.Glu1393=
ENST00000316623.9:c.4177_4200delinsGAAGGATACACAGGTGATGGCTTC ENSP00000325527.5:p.Glu1393=
ENST00000537463.6:c.849_872delinsGAAGGATACACAGGTGATGGCTTC ENSP00000440294.2:p.Arg283=
NM_000138.4:c.4177_4200delinsGAAGGATACACAGGTGATGGCTTC , LRG_778t1:c.4177_4200delinsGAAGGATACACAGGTGATGGCTTC NP_000129.3:p.Glu1393=
NM_000138.5:c.4177_4200delinsGAAGGATACACAGGTGATGGCTTC MANE Select NP_000129.3:p.Glu1393=
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