Canonical Allele Identifier: CA2175497524
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428138G= , CM000677.2:g.48428138G= GRCh38
NC_000015.9:g.48720335G= , CM000677.1:g.48720335G= GRCh37
NC_000015.8:g.46507627G= NCBI36
NG_008805.2:g.222651C= , LRG_778:g.222651C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6998-195C= ENSP00000453958.2:n.6998-195C=
ENST00000674301.2:c.*449-195C= ENSP00000501333.2:n.*449-195C=
ENST00000682170.1:n.814C=
ENST00000682767.1:n.233-195C=
ENST00000316623.10:c.6997+208C= MANE Select ENSP00000325527.5:n.6997+208C=
ENST00000674301.1:c.2102-195C= ENSP00000501333.1:n.2102-195C=
ENST00000316623.9:c.6997+208C= ENSP00000325527.5:n.6997+208C=
ENST00000559133.5:c.2305-195C=
ENST00000560720.1:n.492C=
NM_000138.4:c.6997+208C= , LRG_778t1:c.6997+208C= NP_000129.3:n.6997+208C=
NM_000138.5:c.6997+208C= MANE Select NP_000129.3:n.6997+208C=
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