Canonical Allele Identifier: CA10587809
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263866
ClinVar RCV Id: RCV002310876
dbSNP Id: rs886038959
MyVariant Identifiers: chr15:g.48738971del (hg19) chr15:g.48446774del (hg38)
PubMed: PMID:17657824
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446775del , CM000677.2:g.48446775del GRCh38
NC_000015.9:g.48738972del , CM000677.1:g.48738972del GRCh37
NC_000015.8:g.46526264del NCBI36
NG_008805.2:g.204015del , LRG_778:g.204015del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5720del ENSP00000453958.2:p.Asn1907ThrfsTer23
ENST00000674301.2:c.5720del ENSP00000501333.2:p.Asn1907ThrfsTer23
ENST00000684448.1:n.4394del
ENST00000316623.10:c.5720del MANE Select ENSP00000325527.5:p.Asn1907ThrfsTer23
ENST00000674301.1:c.719del ENSP00000501333.1:p.Asn240ThrfsTer23
ENST00000316623.9:c.5720del ENSP00000325527.5:p.Asn1907ThrfsTer23
ENST00000537463.6:c.*1483del ENSP00000440294.2:n.*1483del
ENST00000559133.5:c.1027del
NM_000138.4:c.5720del , LRG_778t1:c.5720del NP_000129.3:p.Asn1907ThrfsTer23
NM_000138.5:c.5720del MANE Select NP_000129.3:p.Asn1907ThrfsTer23
Search 100 bp 5'
Search 100 bp 3'