Canonical Allele Identifier: CA658798339
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519793
ClinVar RCV Id: RCV002313277
dbSNP Id: rs1555399147
MyVariant Identifiers: chr15:g.48787332del (hg19) chr15:g.48495135del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48495137del , CM000677.2:g.48495137del GRCh38
NC_000015.9:g.48787334del , CM000677.1:g.48787334del GRCh37
NC_000015.8:g.46574626del NCBI36
NG_008805.2:g.155654del , LRG_778:g.155654del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2665del ENSP00000453958.2:p.Leu889TyrfsTer23
ENST00000674301.2:c.2665del ENSP00000501333.2:p.Leu889TyrfsTer23
ENST00000684448.1:n.1339del
ENST00000316623.10:c.2665del MANE Select ENSP00000325527.5:p.Leu889TyrfsTer23
ENST00000316623.9:c.2665del ENSP00000325527.5:p.Leu889TyrfsTer23
ENST00000537463.6:c.637-20485del ENSP00000440294.2:n.637-20485del
NM_000138.4:c.2665del , LRG_778t1:c.2665del NP_000129.3:p.Leu889TyrfsTer23
NM_000138.5:c.2665del MANE Select NP_000129.3:p.Leu889TyrfsTer23
Search 100 bp 5'
Search 100 bp 3'