Canonical Allele Identifier: CA891844027
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 575476
ClinVar RCV Id: RCV000697704
dbSNP Id: rs1566911908
MyVariant Identifiers: chr15:g.48788332del (hg19) chr15:g.48496135del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48496137del , CM000677.2:g.48496137del GRCh38
NC_000015.9:g.48788334del , CM000677.1:g.48788334del GRCh37
NC_000015.8:g.46575626del NCBI36
NG_008805.2:g.154654del , LRG_778:g.154654del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2384del ENSP00000453958.2:p.Gly795AspfsTer8
ENST00000674301.2:c.2384del ENSP00000501333.2:p.Gly795AspfsTer8
ENST00000684448.1:n.1058del
ENST00000316623.10:c.2384del MANE Select ENSP00000325527.5:p.Gly795AspfsTer8
ENST00000316623.9:c.2384del ENSP00000325527.5:p.Gly795AspfsTer8
ENST00000537463.6:c.637-21485del ENSP00000440294.2:n.637-21485del
NM_000138.4:c.2384del , LRG_778t1:c.2384del NP_000129.3:p.Gly795AspfsTer8
NM_000138.5:c.2384del MANE Select NP_000129.3:p.Gly795AspfsTer8
Search 100 bp 5'
Search 100 bp 3'