Canonical Allele Identifier: CA16043493
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374118
ClinVar RCV Id: RCV000414847
dbSNP Id: rs1057518912

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48456645del , CM000677.2:g.48456645del GRCh38
NC_000015.9:g.48748842del , CM000677.1:g.48748842del GRCh37
NC_000015.8:g.46536134del NCBI36
NG_008805.2:g.194146del , LRG_778:g.194146del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5416del ENSP00000453958.2:p.Cys1806ValfsTer?
ENST00000674301.2:c.5416del ENSP00000501333.2:p.Cys1806ValfsTer?
ENST00000684448.1:n.4090del
ENST00000316623.10:c.5416del MANE Select ENSP00000325527.5:p.Cys1806ValfsTer?
ENST00000674301.1:c.415del ENSP00000501333.1:p.Cys139ValfsTer?
ENST00000316623.9:c.5416del ENSP00000325527.5:p.Cys1806ValfsTer?
ENST00000537463.6:c.*1179del ENSP00000440294.2:n.*1179del
ENST00000559133.5:c.723del
NM_000138.4:c.5416del , LRG_778t1:c.5416del NP_000129.3:p.Cys1806ValfsTer?
NM_000138.5:c.5416del MANE Select NP_000129.3:p.Cys1806ValfsTer?