Canonical Allele Identifier: CA013866
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36064
ClinVar RCV Id: RCV000029724 RCV000544271 RCV000606802
dbSNP Id: rs193922198
MyVariant Identifiers: chr15:g.48780580del (hg19) chr15:g.48488383del (hg38)
PubMed: PMID:9101298 PMID:17627385
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48488383del , CM000677.2:g.48488383del GRCh38
NC_000015.9:g.48780580del , CM000677.1:g.48780580del GRCh37
NC_000015.8:g.46567872del NCBI36
NG_008805.2:g.162406del , LRG_778:g.162406del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3193del ENSP00000453958.2:p.Glu1065LysfsTer23
ENST00000674301.2:c.3193del ENSP00000501333.2:p.Glu1065LysfsTer23
ENST00000684448.1:n.1867del
ENST00000316623.10:c.3193del MANE Select ENSP00000325527.5:p.Glu1065LysfsTer23
ENST00000316623.9:c.3193del ENSP00000325527.5:p.Glu1065LysfsTer23
ENST00000537463.6:c.637-13733del ENSP00000440294.2:n.637-13733del
NM_000138.4:c.3193del , LRG_778t1:c.3193del NP_000129.3:p.Glu1065LysfsTer23
NM_000138.5:c.3193del MANE Select NP_000129.3:p.Glu1065LysfsTer23
Search 100 bp 5'
Search 100 bp 3'