Canonical Allele Identifier: CA16614504
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406311
ClinVar RCV Id: RCV000462025 RCV002365621
dbSNP Id: rs1060501051
MyVariant Identifiers: chr15:g.48720577del (hg19) chr15:g.48428380del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428382del , CM000677.2:g.48428382del GRCh38
NC_000015.9:g.48720579del , CM000677.1:g.48720579del GRCh37
NC_000015.8:g.46507871del NCBI36
NG_008805.2:g.222409del , LRG_778:g.222409del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6963del ENSP00000453958.2:p.Phe2322LeufsTer?
ENST00000674301.2:c.*414del ENSP00000501333.2:n.*414del
ENST00000682170.1:n.572del
ENST00000682767.1:n.198del
ENST00000316623.10:c.6963del MANE Select ENSP00000325527.5:p.Phe2322LeufsTer?
ENST00000674301.1:c.2067del ENSP00000501333.1:n.2067del
ENST00000316623.9:c.6963del ENSP00000325527.5:p.Phe2322LeufsTer?
ENST00000559133.5:c.2270del
ENST00000560720.1:n.250del
NM_000138.4:c.6963del , LRG_778t1:c.6963del NP_000129.3:p.Phe2322LeufsTer?
NM_000138.5:c.6963del MANE Select NP_000129.3:p.Phe2322LeufsTer?
Search 100 bp 5'
Search 100 bp 3'