Canonical Allele Identifier: CA016157
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200164
ClinVar RCV Id: RCV000181667
dbSNP Id: rs794728312
MyVariant Identifiers: chr15:g.48737597del (hg19) chr15:g.48445400del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445401del , CM000677.2:g.48445401del GRCh38
NC_000015.9:g.48737598del , CM000677.1:g.48737598del GRCh37
NC_000015.8:g.46524890del NCBI36
NG_008805.2:g.205389del , LRG_778:g.205389del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5893del ENSP00000453958.2:p.Ala1965LeufsTer15
ENST00000674301.2:c.5893del ENSP00000501333.2:p.Ala1965LeufsTer15
ENST00000684448.1:n.4567del
ENST00000316623.10:c.5893del MANE Select ENSP00000325527.5:p.Ala1965LeufsTer15
ENST00000674301.1:c.892del ENSP00000501333.1:p.Ala298LeufsTer15
ENST00000316623.9:c.5893del ENSP00000325527.5:p.Ala1965LeufsTer15
ENST00000537463.6:c.*1656del ENSP00000440294.2:n.*1656del
ENST00000559133.5:c.1200del
ENST00000560820.1:n.13del
NM_000138.4:c.5893del , LRG_778t1:c.5893del NP_000129.3:p.Ala1965LeufsTer15
NM_000138.5:c.5893del MANE Select NP_000129.3:p.Ala1965LeufsTer15
Search 100 bp 5'
Search 100 bp 3'