Canonical Allele Identifier: CA2175529213
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48508572T= , CM000677.2:g.48508572T= GRCh38
NC_000015.9:g.48800769T= , CM000677.1:g.48800769T= GRCh37
NC_000015.8:g.46588061T= NCBI36
NG_008805.2:g.142217A= , LRG_778:g.142217A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1837+10A= ENSP00000453958.2:n.1837+10A=
ENST00000674301.2:c.1837+10A= ENSP00000501333.2:n.1837+10A=
ENST00000684448.1:n.511+10A=
ENST00000316623.10:c.1837+10A= MANE Select ENSP00000325527.5:n.1837+10A=
ENST00000316623.9:c.1837+10A= ENSP00000325527.5:n.1837+10A=
ENST00000537463.6:c.636+29139A= ENSP00000440294.2:n.636+29139A=
NM_000138.4:c.1837+10A= , LRG_778t1:c.1837+10A= NP_000129.3:n.1837+10A=
NM_000138.5:c.1837+10A= MANE Select NP_000129.3:n.1837+10A=
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