Canonical Allele Identifier: CA2175488120
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412815G= , CM000677.2:g.48412815G= GRCh38
NC_000015.9:g.48705012G= , CM000677.1:g.48705012G= GRCh37
NC_000015.8:g.46492304G= NCBI36
NG_008805.2:g.237974C= , LRG_778:g.237974C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*860-72C= ENSP00000453958.2:n.*860-72C=
ENST00000674301.2:c.*1565-72C= ENSP00000501333.2:n.*1565-72C=
ENST00000682158.1:n.1433-72C=
ENST00000682170.1:n.2233-72C=
ENST00000682767.1:n.1349-72C=
ENST00000316623.10:c.8052-72C= MANE Select ENSP00000325527.5:n.8052-72C=
ENST00000674301.1:c.3218-72C= ENSP00000501333.1:n.3218-72C=
ENST00000316623.9:c.8052-72C= ENSP00000325527.5:n.8052-72C=
ENST00000559133.5:c.3421-72C=
ENST00000561429.1:n.307-72C=
NM_000138.4:c.8052-72C= , LRG_778t1:c.8052-72C= NP_000129.3:n.8052-72C=
NM_000138.5:c.8052-72C= MANE Select NP_000129.3:n.8052-72C=
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