Canonical Allele Identifier: CA2175497460
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428094C= , CM000677.2:g.48428094C= GRCh38
NC_000015.9:g.48720291C= , CM000677.1:g.48720291C= GRCh37
NC_000015.8:g.46507583C= NCBI36
NG_008805.2:g.222695G= , LRG_778:g.222695G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6998-151G= ENSP00000453958.2:n.6998-151G=
ENST00000674301.2:c.*449-151G= ENSP00000501333.2:n.*449-151G=
ENST00000682170.1:n.858G=
ENST00000682767.1:n.233-151G=
ENST00000316623.10:c.6997+252G= MANE Select ENSP00000325527.5:n.6997+252G=
ENST00000674301.1:c.2102-151G= ENSP00000501333.1:n.2102-151G=
ENST00000316623.9:c.6997+252G= ENSP00000325527.5:n.6997+252G=
ENST00000559133.5:c.2305-151G=
ENST00000560720.1:n.536G=
NM_000138.4:c.6997+252G= , LRG_778t1:c.6997+252G= NP_000129.3:n.6997+252G=
NM_000138.5:c.6997+252G= MANE Select NP_000129.3:n.6997+252G=
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