Canonical Allele Identifier: CA658824922
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428411dup , CM000677.2:g.48428411dup GRCh38
NC_000015.9:g.48720608dup , CM000677.1:g.48720608dup GRCh37
NC_000015.8:g.46507900dup NCBI36
NG_008805.2:g.222378dup , LRG_778:g.222378dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6932dup ENSP00000453958.2:p.Gly2312TrpfsTer6
ENST00000674301.2:c.*383dup ENSP00000501333.2:n.*383dup
ENST00000682170.1:n.541dup
ENST00000682767.1:n.167dup
ENST00000316623.10:c.6932dup MANE Select ENSP00000325527.5:p.Gly2312TrpfsTer6
ENST00000674301.1:c.2036dup ENSP00000501333.1:n.2036dup
ENST00000316623.9:c.6932dup ENSP00000325527.5:p.Gly2312TrpfsTer6
ENST00000559133.5:c.2239dup
ENST00000560720.1:n.219dup
NM_000138.4:c.6932dup , LRG_778t1:c.6932dup NP_000129.3:p.Gly2312TrpfsTer6
NM_000138.5:c.6932dup MANE Select NP_000129.3:p.Gly2312TrpfsTer6
Search 100 bp 5'
Search 100 bp 3'