Canonical Allele Identifier: CA2804067582
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421873C>T , CM000677.2:g.48421873C>T GRCh38
NC_000015.9:g.48714070C>T , CM000677.1:g.48714070C>T GRCh37
NC_000015.8:g.46501362C>T NCBI36
NG_008805.2:g.228916G>A , LRG_778:g.228916G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*378+79G>A ENSP00000453958.2:n.*378+79G>A
ENST00000674301.2:c.*1083+79G>A ENSP00000501333.2:n.*1083+79G>A
ENST00000682170.1:n.1751+79G>A
ENST00000682767.1:n.867+79G>A
ENST00000316623.10:c.7570+79G>A MANE Select ENSP00000325527.5:n.7570+79G>A
ENST00000674301.1:c.2736+79G>A ENSP00000501333.1:n.2736+79G>A
ENST00000316623.9:c.7570+79G>A ENSP00000325527.5:n.7570+79G>A
ENST00000559133.5:c.2939+79G>A
NM_000138.4:c.7570+79G>A , LRG_778t1:c.7570+79G>A NP_000129.3:n.7570+79G>A
NM_000138.5:c.7570+79G>A MANE Select NP_000129.3:n.7570+79G>A
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