Canonical Allele Identifier: CA16614472
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406284
ClinVar RCV Id: RCV000474560
dbSNP Id: rs1060501033

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411045del , CM000677.2:g.48411045del GRCh38
NC_000015.9:g.48703242del , CM000677.1:g.48703242del GRCh37
NC_000015.8:g.46490534del NCBI36
NG_008805.2:g.239744del , LRG_778:g.239744del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*1369del ENSP00000453958.2:n.*1369del
ENST00000682158.1:n.1942del
ENST00000682170.1:n.2742del
ENST00000682767.1:n.1858del
ENST00000316623.10:c.8561del MANE Select ENSP00000325527.5:p.Leu2854ProfsTer9
ENST00000316623.9:c.8561del ENSP00000325527.5:p.Leu2854ProfsTer9
ENST00000559133.5:c.3930del
NM_000138.4:c.8561del , LRG_778t1:c.8561del NP_000129.3:p.Leu2854ProfsTer9
NM_000138.5:c.8561del MANE Select NP_000129.3:p.Leu2854ProfsTer9