Canonical Allele Identifier: CA2175512334
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48444668G= , CM000677.2:g.48444668G= GRCh38
NC_000015.9:g.48736865G= , CM000677.1:g.48736865G= GRCh37
NC_000015.8:g.46524157G= NCBI36
NG_008805.2:g.206121C= , LRG_778:g.206121C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5918-8C= ENSP00000453958.2:n.5918-8C=
ENST00000674301.2:c.5918-8C= ENSP00000501333.2:n.5918-8C=
ENST00000684448.1:n.4592-8C=
ENST00000316623.10:c.5918-8C= MANE Select ENSP00000325527.5:n.5918-8C=
ENST00000674301.1:c.917-8C= ENSP00000501333.1:n.917-8C=
ENST00000316623.9:c.5918-8C= ENSP00000325527.5:n.5918-8C=
ENST00000537463.6:c.*1681-8C= ENSP00000440294.2:n.*1681-8C=
ENST00000559133.5:c.1225-8C=
ENST00000560820.1:n.38-8C=
NM_000138.4:c.5918-8C= , LRG_778t1:c.5918-8C= NP_000129.3:n.5918-8C=
NM_000138.5:c.5918-8C= MANE Select NP_000129.3:n.5918-8C=
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