Canonical Allele Identifier: CA16614686
Community Standard Title: NM_000138.5(FBN1):c.799_805del (p.Gly267LeufsTer?)
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48534139_48534145del , CM000677.2:g.48534139_48534145del GRCh38
NC_000015.9:g.48826336_48826342del , CM000677.1:g.48826336_48826342del GRCh37
NC_000015.8:g.46613628_46613634del NCBI36
NG_008805.2:g.116646_116652del , LRG_778:g.116646_116652del

Transcript Alleles

HGVS Amino-acid Change
NM_000138.5:c.799_805del MANE Select NP_000129.3:p.Gly267LeufsTer?
ENST00000316623.10:c.799_805del MANE Select ENSP00000325527.5:p.Gly267LeufsTer?
NM_000138.4:c.799_805del , LRG_778t1:c.799_805del NP_000129.3:p.Gly267LeufsTer?
ENST00000316623.9:c.799_805del ENSP00000325527.5:p.Gly267LeufsTer?
ENST00000537463.6:c.636+3568_636+3574del ENSP00000440294.2:n.636+3568_636+3574del
ENST00000559133.6:c.799_805del ENSP00000453958.2:p.Gly267LeufsTer?
ENST00000674301.2:c.799_805del ENSP00000501333.2:p.Gly267LeufsTer?
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