Canonical Allele Identifier: CA2695220826
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411072dup , CM000677.2:g.48411072dup GRCh38
NC_000015.9:g.48703269dup , CM000677.1:g.48703269dup GRCh37
NC_000015.8:g.46490561dup NCBI36
NG_008805.2:g.239717dup , LRG_778:g.239717dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1342dup ENSP00000453958.2:n.*1342dup
ENST00000682158.1:n.1915dup
ENST00000682170.1:n.2715dup
ENST00000682767.1:n.1831dup
ENST00000316623.10:c.8534dup MANE Select ENSP00000325527.5:p.Glu2846ArgfsTer5
ENST00000316623.9:c.8534dup ENSP00000325527.5:p.Glu2846ArgfsTer5
ENST00000559133.5:c.3903dup
NM_000138.4:c.8534dup , LRG_778t1:c.8534dup NP_000129.3:p.Glu2846ArgfsTer5
NM_000138.5:c.8534dup MANE Select NP_000129.3:p.Glu2846ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'