Canonical Allele Identifier: CA16619937
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419823
dbSNP Id: rs1064794130

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411080_48411084del , CM000677.2:g.48411080_48411084del GRCh38
NC_000015.9:g.48703277_48703281del , CM000677.1:g.48703277_48703281del GRCh37
NC_000015.8:g.46490569_46490573del NCBI36
NG_008805.2:g.239708_239712del , LRG_778:g.239708_239712del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*1333_*1337del ENSP00000453958.2:n.*1333_*1337del
ENST00000682158.1:n.1906_1910del
ENST00000682170.1:n.2706_2710del
ENST00000682767.1:n.1822_1826del
ENST00000316623.10:c.8525_8529del MANE Select ENSP00000325527.5:p.Leu2842ProfsTer7
ENST00000316623.9:c.8525_8529del ENSP00000325527.5:p.Leu2842ProfsTer7
ENST00000559133.5:c.3894_3898del
NM_000138.4:c.8525_8529del , LRG_778t1:c.8525_8529del NP_000129.3:p.Leu2842ProfsTer7
NM_000138.5:c.8525_8529del MANE Select NP_000129.3:p.Leu2842ProfsTer7