Canonical Allele Identifier: CA2175464271
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421951_48421959delinsCCAATGCAG , CM000677.2:g.48421951_48421959delinsCCAATGCAG GRCh38
NC_000015.9:g.48714148_48714156delinsCCAATGCAG , CM000677.1:g.48714148_48714156delinsCCAATGCAG GRCh37
NC_000015.8:g.46501440_46501448delinsCCAATGCAG NCBI36
NG_008805.2:g.228830_228838delinsCTGCATTGG , LRG_778:g.228830_228838delinsCTGCATTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*371_*378+1delinsCTGCATTGG
ENST00000674301.2:c.*1076_*1083+1delinsCTGCATTGG
ENST00000682170.1:n.1744_1751+1delinsCTGCATTGG
ENST00000682767.1:n.860_867+1delinsCTGCATTGG
ENST00000316623.10:c.7563_7570+1delinsCTGCATTGG
ENST00000674301.1:c.2729_2736+1delinsCTGCATTGG
ENST00000316623.9:c.7563_7570+1delinsCTGCATTGG
ENST00000559133.5:c.2932_2939+1delinsCTGCATTGG
NM_000138.4:c.7563_7570+1delinsCTGCATTGG , LRG_778t1:c.7563_7570+1delinsCTGCATTGG
NM_000138.5:c.7563_7570+1delinsCTGCATTGG
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