Canonical Allele Identifier: CA012860
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36046
ClinVar RCV Id: RCV000029706
dbSNP Id: rs193922187

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48497373del , CM000677.2:g.48497373del GRCh38
NC_000015.9:g.48789570del , CM000677.1:g.48789570del GRCh37
NC_000015.8:g.46576862del NCBI36
NG_008805.2:g.153416del , LRG_778:g.153416del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2186del ENSP00000453958.2:p.Leu729GlnfsTer?
ENST00000674301.2:c.2186del ENSP00000501333.2:p.Leu729GlnfsTer?
ENST00000684448.1:n.860del
ENST00000316623.10:c.2186del MANE Select ENSP00000325527.5:p.Leu729GlnfsTer?
ENST00000316623.9:c.2186del ENSP00000325527.5:p.Leu729GlnfsTer?
ENST00000537463.6:c.637-22723del ENSP00000440294.2:n.637-22723del
NM_000138.4:c.2186del , LRG_778t1:c.2186del NP_000129.3:p.Leu729GlnfsTer?
NM_000138.5:c.2186del MANE Select NP_000129.3:p.Leu729GlnfsTer?