Canonical Allele Identifier: CA658653674
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411089_48411092del , CM000677.2:g.48411089_48411092del GRCh38
NC_000015.9:g.48703286_48703289del , CM000677.1:g.48703286_48703289del GRCh37
NC_000015.8:g.46490578_46490581del NCBI36
NG_008805.2:g.239703_239706del , LRG_778:g.239703_239706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1328_*1331del ENSP00000453958.2:n.*1328_*1331del
ENST00000682158.1:n.1901_1904del
ENST00000682170.1:n.2701_2704del
ENST00000682767.1:n.1817_1820del
ENST00000316623.10:c.8520_8523del MANE Select ENSP00000325527.5:p.Lys2840AsnfsTer5
ENST00000316623.9:c.8520_8523del ENSP00000325527.5:p.Lys2840AsnfsTer5
ENST00000559133.5:c.3889_3892del
NM_000138.4:c.8520_8523del , LRG_778t1:c.8520_8523del NP_000129.3:p.Lys2840AsnfsTer5
NM_000138.5:c.8520_8523del MANE Select NP_000129.3:p.Lys2840AsnfsTer5
Search 100 bp 5'
Search 100 bp 3'