Canonical Allele Identifier: CA658798379
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48644660del , CM000677.2:g.48644660del GRCh38
NC_000015.9:g.48936857del , CM000677.1:g.48936857del GRCh37
NC_000015.8:g.46724149del NCBI36
NG_008805.2:g.6130del , LRG_778:g.6130del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.111del ENSP00000453958.2:p.Arg38GlufsTer?
ENST00000674301.2:c.111del ENSP00000501333.2:p.Arg38GlufsTer?
ENST00000316623.10:c.111del MANE Select ENSP00000325527.5:p.Arg38GlufsTer?
ENST00000316623.9:c.111del ENSP00000325527.5:p.Arg38GlufsTer?
ENST00000537463.6:c.111del ENSP00000440294.2:p.Arg38GlufsTer?
ENST00000558230.1:n.174del
ENST00000560355.1:c.111del ENSP00000453901.1:p.Arg38GlufsTer?
NM_000138.4:c.111del , LRG_778t1:c.111del NP_000129.3:p.Arg38GlufsTer?
NM_000138.5:c.111del MANE Select NP_000129.3:p.Arg38GlufsTer?
Search 100 bp 5'
Search 100 bp 3'