Canonical Allele Identifier: CA645293894
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426193
ClinVar RCV Id: RCV000488948
dbSNP Id: rs1085307490

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48596352_48596355del , CM000677.2:g.48596352_48596355del GRCh38
NC_000015.9:g.48888549_48888552del , CM000677.1:g.48888549_48888552del GRCh37
NC_000015.8:g.46675841_46675844del NCBI36
NG_008805.2:g.54434_54437del , LRG_778:g.54434_54437del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.466_469del ENSP00000453958.2:p.Asn156GlufsTer?
ENST00000674301.2:c.466_469del ENSP00000501333.2:p.Asn156GlufsTer?
ENST00000316623.10:c.466_469del MANE Select ENSP00000325527.5:p.Asn156GlufsTer?
ENST00000316623.9:c.466_469del ENSP00000325527.5:p.Asn156GlufsTer?
ENST00000537463.6:c.466_469del ENSP00000440294.2:p.Asn156GlufsTer?
NM_000138.4:c.466_469del , LRG_778t1:c.466_469del NP_000129.3:p.Asn156GlufsTer?
NM_000138.5:c.466_469del MANE Select NP_000129.3:p.Asn156GlufsTer?