Canonical Allele Identifier: CA891844498
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 572456
ClinVar RCV Id: RCV000693839 RCV000756142
dbSNP Id: rs1566906389
MyVariant Identifiers: chr15:g.48766463_48766485del (hg19) chr15:g.48474266_48474288del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474266_48474288del , CM000677.2:g.48474266_48474288del GRCh38
NC_000015.9:g.48766463_48766485del , CM000677.1:g.48766463_48766485del GRCh37
NC_000015.8:g.46553755_46553777del NCBI36
NG_008805.2:g.176501_176523del , LRG_778:g.176501_176523del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4177_4199del ENSP00000453958.2:p.Glu1393HisfsTer6
ENST00000674301.2:c.4177_4199del ENSP00000501333.2:p.Glu1393HisfsTer6
ENST00000684448.1:n.2851_2873del
ENST00000316623.10:c.4177_4199del MANE Select ENSP00000325527.5:p.Glu1393HisfsTer6
ENST00000316623.9:c.4177_4199del ENSP00000325527.5:p.Glu1393HisfsTer6
ENST00000537463.6:c.849_871del ENSP00000440294.2:p.Arg283SerfsTer?
NM_000138.4:c.4177_4199del , LRG_778t1:c.4177_4199del NP_000129.3:p.Glu1393HisfsTer6
NM_000138.5:c.4177_4199del MANE Select NP_000129.3:p.Glu1393HisfsTer6
Search 100 bp 5'
Search 100 bp 3'