Canonical Allele Identifier: CA2175464059
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421837C= , CM000677.2:g.48421837C= GRCh38
NC_000015.9:g.48714034C= , CM000677.1:g.48714034C= GRCh37
NC_000015.8:g.46501326C= NCBI36
NG_008805.2:g.228952G= , LRG_778:g.228952G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*378+115G= ENSP00000453958.2:n.*378+115G=
ENST00000674301.2:c.*1083+115G= ENSP00000501333.2:n.*1083+115G=
ENST00000682170.1:n.1751+115G=
ENST00000682767.1:n.867+115G=
ENST00000316623.10:c.7570+115G= MANE Select ENSP00000325527.5:n.7570+115G=
ENST00000674301.1:c.2736+115G= ENSP00000501333.1:n.2736+115G=
ENST00000316623.9:c.7570+115G= ENSP00000325527.5:n.7570+115G=
ENST00000559133.5:c.2939+115G=
NM_000138.4:c.7570+115G= , LRG_778t1:c.7570+115G= NP_000129.3:n.7570+115G=
NM_000138.5:c.7570+115G= MANE Select NP_000129.3:n.7570+115G=
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