Canonical Allele Identifier: CA16042871
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373067
ClinVar RCV Id: RCV000413898
dbSNP Id: rs1057518188
MyVariant Identifiers: chr15:g.48758044del (hg19) chr15:g.48465847del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48465850del , CM000677.2:g.48465850del GRCh38
NC_000015.9:g.48758047del , CM000677.1:g.48758047del GRCh37
NC_000015.8:g.46545339del NCBI36
NG_008805.2:g.184942del , LRG_778:g.184942del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.4759del ENSP00000453958.2:p.Ile1587PhefsTer?
ENST00000674301.2:c.4759del ENSP00000501333.2:p.Ile1587PhefsTer?
ENST00000684448.1:n.3433del
ENST00000316623.10:c.4759del MANE Select ENSP00000325527.5:p.Ile1587PhefsTer?
ENST00000316623.9:c.4759del ENSP00000325527.5:p.Ile1587PhefsTer?
ENST00000537463.6:c.*522del ENSP00000440294.2:n.*522del
ENST00000559133.5:c.66del
NM_000138.4:c.4759del , LRG_778t1:c.4759del NP_000129.3:p.Ile1587PhefsTer?
NM_000138.5:c.4759del MANE Select NP_000129.3:p.Ile1587PhefsTer?
Search 100 bp 5'
Search 100 bp 3'