Canonical Allele Identifier: CA16619938
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418893
ClinVar RCV Id: RCV000481974
dbSNP Id: rs1064793503
MyVariant Identifiers: chr15:g.48703547del (hg19) chr15:g.48411350del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411350del , CM000677.2:g.48411350del GRCh38
NC_000015.9:g.48703547del , CM000677.1:g.48703547del GRCh37
NC_000015.8:g.46490839del NCBI36
NG_008805.2:g.239439del , LRG_778:g.239439del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*1064del ENSP00000453958.2:n.*1064del
ENST00000674301.2:c.*1769del ENSP00000501333.2:n.*1769del
ENST00000682158.1:n.1637del
ENST00000682170.1:n.2437del
ENST00000682767.1:n.1553del
ENST00000316623.10:c.8256del MANE Select ENSP00000325527.5:p.Ala2754GlnfsTer25
ENST00000674301.1:c.3422del ENSP00000501333.1:n.3422del
ENST00000316623.9:c.8256del ENSP00000325527.5:p.Ala2754GlnfsTer25
ENST00000559133.5:c.3625del
ENST00000561429.1:n.511del
NM_000138.4:c.8256del , LRG_778t1:c.8256del NP_000129.3:p.Ala2754GlnfsTer25
NM_000138.5:c.8256del MANE Select NP_000129.3:p.Ala2754GlnfsTer25
Search 100 bp 5'
Search 100 bp 3'