Canonical Allele Identifier: CA2695220828
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411088del , CM000677.2:g.48411088del GRCh38
NC_000015.9:g.48703285del , CM000677.1:g.48703285del GRCh37
NC_000015.8:g.46490577del NCBI36
NG_008805.2:g.239703del , LRG_778:g.239703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1328del ENSP00000453958.2:n.*1328del
ENST00000682158.1:n.1901del
ENST00000682170.1:n.2701del
ENST00000682767.1:n.1817del
ENST00000316623.10:c.8520del MANE Select ENSP00000325527.5:p.Glu2841AsnfsTer5
ENST00000316623.9:c.8520del ENSP00000325527.5:p.Glu2841AsnfsTer5
ENST00000559133.5:c.3889del
NM_000138.4:c.8520del , LRG_778t1:c.8520del NP_000129.3:p.Glu2841AsnfsTer5
NM_000138.5:c.8520del MANE Select NP_000129.3:p.Glu2841AsnfsTer5
Search 100 bp 5'
Search 100 bp 3'