Canonical Allele Identifier: CA658798347
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527214
ClinVar RCV Id: RCV000632024
dbSNP Id: rs1555399770
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503897delinsATACA , CM000677.2:g.48503897delinsATACA GRCh38
NC_000015.9:g.48796094delinsATACA , CM000677.1:g.48796094delinsATACA GRCh37
NC_000015.8:g.46583386delinsATACA NCBI36
NG_008805.2:g.146892delinsTGTAT , LRG_778:g.146892delinsTGTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2003delinsTGTAT ENSP00000453958.2:p.Gly668ValfsTer14
ENST00000674301.2:c.2003delinsTGTAT ENSP00000501333.2:p.Gly668ValfsTer14
ENST00000684448.1:n.677delinsTGTAT
ENST00000316623.10:c.2003delinsTGTAT MANE Select ENSP00000325527.5:p.Gly668ValfsTer14
ENST00000316623.9:c.2003delinsTGTAT ENSP00000325527.5:p.Gly668ValfsTer14
ENST00000537463.6:c.637-29247delinsTGTAT ENSP00000440294.2:n.637-29247delinsTGTAT
NM_000138.4:c.2003delinsTGTAT , LRG_778t1:c.2003delinsTGTAT NP_000129.3:p.Gly668ValfsTer14
NM_000138.5:c.2003delinsTGTAT MANE Select NP_000129.3:p.Gly668ValfsTer14
Search 100 bp 5'
Search 100 bp 3'