Canonical Allele Identifier: CA2580613811
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572491
ClinVar RCV Id: RCV003314376
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48492486del , CM000677.2:g.48492486del GRCh38
NC_000015.9:g.48784683del , CM000677.1:g.48784683del GRCh37
NC_000015.8:g.46571975del NCBI36
NG_008805.2:g.158304del , LRG_778:g.158304del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2830del ENSP00000453958.2:p.Asp944MetfsTer17
ENST00000674301.2:c.2830del ENSP00000501333.2:p.Asp944MetfsTer17
ENST00000684448.1:n.1504del
ENST00000316623.10:c.2830del MANE Select ENSP00000325527.5:p.Asp944MetfsTer17
ENST00000316623.9:c.2830del ENSP00000325527.5:p.Asp944MetfsTer17
ENST00000537463.6:c.637-17835del ENSP00000440294.2:n.637-17835del
NM_000138.4:c.2830del , LRG_778t1:c.2830del NP_000129.3:p.Asp944MetfsTer17
NM_000138.5:c.2830del MANE Select NP_000129.3:p.Asp944MetfsTer17
Search 100 bp 5'
Search 100 bp 3'