Canonical Allele Identifier: CA2175488109
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412793G= , CM000677.2:g.48412793G= GRCh38
NC_000015.9:g.48704990G= , CM000677.1:g.48704990G= GRCh37
NC_000015.8:g.46492282G= NCBI36
NG_008805.2:g.237996C= , LRG_778:g.237996C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*860-50C= ENSP00000453958.2:n.*860-50C=
ENST00000674301.2:c.*1565-50C= ENSP00000501333.2:n.*1565-50C=
ENST00000682158.1:n.1433-50C=
ENST00000682170.1:n.2233-50C=
ENST00000682767.1:n.1349-50C=
ENST00000316623.10:c.8052-50C= MANE Select ENSP00000325527.5:n.8052-50C=
ENST00000674301.1:c.3218-50C= ENSP00000501333.1:n.3218-50C=
ENST00000316623.9:c.8052-50C= ENSP00000325527.5:n.8052-50C=
ENST00000559133.5:c.3421-50C=
ENST00000561429.1:n.307-50C=
NM_000138.4:c.8052-50C= , LRG_778t1:c.8052-50C= NP_000129.3:n.8052-50C=
NM_000138.5:c.8052-50C= MANE Select NP_000129.3:n.8052-50C=
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