Canonical Allele Identifier: CA2175498494
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428473T= , CM000677.2:g.48428473T= GRCh38
NC_000015.9:g.48720670T= , CM000677.1:g.48720670T= GRCh37
NC_000015.8:g.46507962T= NCBI36
NG_008805.2:g.222316A= , LRG_778:g.222316A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6872-2A= ENSP00000453958.2:n.6872-2A=
ENST00000674301.2:c.*323-2A= ENSP00000501333.2:n.*323-2A=
ENST00000682170.1:n.481-2A=
ENST00000682767.1:n.105A=
ENST00000316623.10:c.6872-2A= MANE Select ENSP00000325527.5:n.6872-2A=
ENST00000674301.1:c.1976-2A= ENSP00000501333.1:n.1976-2A=
ENST00000316623.9:c.6872-2A= ENSP00000325527.5:n.6872-2A=
ENST00000559133.5:c.2179-2A=
ENST00000560720.1:n.159-2A=
NM_000138.4:c.6872-2A= , LRG_778t1:c.6872-2A= NP_000129.3:n.6872-2A=
NM_000138.5:c.6872-2A= MANE Select NP_000129.3:n.6872-2A=
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