Canonical Allele Identifier: CA2175509176
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 988567
ClinVar RCV Id: RCV001269998
dbSNP Id: rs2043117709
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441840_48441842del , CM000677.2:g.48441840_48441842del GRCh38
NC_000015.9:g.48734037_48734039del , CM000677.1:g.48734037_48734039del GRCh37
NC_000015.8:g.46521329_46521331del NCBI36
NG_008805.2:g.208950_208952del , LRG_778:g.208950_208952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6045_6047del ENSP00000453958.2:p.Asp2015del
ENST00000674301.2:c.6045_6047del ENSP00000501333.2:p.Asp2015del
ENST00000316623.10:c.6045_6047del MANE Select ENSP00000325527.5:p.Asp2015del
ENST00000674301.1:c.1044_1046del ENSP00000501333.1:p.Asp348del
ENST00000316623.9:c.6045_6047del ENSP00000325527.5:p.Asp2015del
ENST00000537463.6:c.*1808_*1810del ENSP00000440294.2:n.*1808_*1810del
ENST00000559133.5:c.1352_1354del
ENST00000560820.1:n.165_167del
NM_000138.4:c.6045_6047del , LRG_778t1:c.6045_6047del NP_000129.3:p.Asp2015del
NM_000138.5:c.6045_6047del MANE Select NP_000129.3:p.Asp2015del
Search 100 bp 5'
Search 100 bp 3'