Canonical Allele Identifier: CA2573150798
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325482
ClinVar RCV Id: RCV002246094
dbSNP Id: rs2141303486
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48495132_48495146del , CM000677.2:g.48495132_48495146del GRCh38
NC_000015.9:g.48787329_48787343del , CM000677.1:g.48787329_48787343del GRCh37
NC_000015.8:g.46574621_46574635del NCBI36
NG_008805.2:g.155646_155660del , LRG_778:g.155646_155660del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2657_2671del ENSP00000453958.2:p.Pro886_Cys890del
ENST00000674301.2:c.2657_2671del ENSP00000501333.2:p.Pro886_Cys890del
ENST00000684448.1:n.1331_1345del
ENST00000316623.10:c.2657_2671del MANE Select ENSP00000325527.5:p.Pro886_Cys890del
ENST00000316623.9:c.2657_2671del ENSP00000325527.5:p.Pro886_Cys890del
ENST00000537463.6:c.637-20493_637-20479del ENSP00000440294.2:n.637-20493_637-20479de...
NM_000138.4:c.2657_2671del , LRG_778t1:c.2657_2671del NP_000129.3:p.Pro886_Cys890del
NM_000138.5:c.2657_2671del MANE Select NP_000129.3:p.Pro886_Cys890del
Search 100 bp 5'
Search 100 bp 3'