Canonical Allele Identifier: CA2695220240
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48436962dup , CM000677.2:g.48436962dup GRCh38
NC_000015.9:g.48729159dup , CM000677.1:g.48729159dup GRCh37
NC_000015.8:g.46516451dup NCBI36
NG_008805.2:g.213827dup , LRG_778:g.213827dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6495dup ENSP00000453958.2:p.Asp2166ArgfsTer3
ENST00000674301.2:c.6495dup ENSP00000501333.2:p.Asp2166ArgfsTer3
ENST00000682170.1:n.104dup
ENST00000316623.10:c.6495dup MANE Select ENSP00000325527.5:p.Asp2166ArgfsTer3
ENST00000674301.1:c.1494dup ENSP00000501333.1:p.Asp499ArgfsTer3
ENST00000316623.9:c.6495dup ENSP00000325527.5:p.Asp2166ArgfsTer3
ENST00000537463.6:c.*2258dup ENSP00000440294.2:n.*2258dup
ENST00000559133.5:c.1802dup
NM_000138.4:c.6495dup , LRG_778t1:c.6495dup NP_000129.3:p.Asp2166ArgfsTer3
NM_000138.5:c.6495dup MANE Select NP_000129.3:p.Asp2166ArgfsTer3
Search 100 bp 5'
Search 100 bp 3'