Canonical Allele Identifier: CA2695220644
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474626dup , CM000677.2:g.48474626dup GRCh38
NC_000015.9:g.48766823dup , CM000677.1:g.48766823dup GRCh37
NC_000015.8:g.46554115dup NCBI36
NG_008805.2:g.176163dup , LRG_778:g.176163dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3989dup ENSP00000453958.2:p.His1331ThrfsTer19
ENST00000674301.2:c.3989dup ENSP00000501333.2:p.His1331ThrfsTer19
ENST00000684448.1:n.2663dup
ENST00000316623.10:c.3989dup MANE Select ENSP00000325527.5:p.His1331ThrfsTer19
ENST00000316623.9:c.3989dup ENSP00000325527.5:p.His1331ThrfsTer19
ENST00000537463.6:c.661dup ENSP00000440294.2:p.His221ProfsTer?
NM_000138.4:c.3989dup , LRG_778t1:c.3989dup NP_000129.3:p.His1331ThrfsTer19
NM_000138.5:c.3989dup MANE Select NP_000129.3:p.His1331ThrfsTer19
Search 100 bp 5'
Search 100 bp 3'