Canonical Allele Identifier: CA10588588
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265141
ClinVar RCV Id: RCV000255079
dbSNP Id: rs886039360
MyVariant Identifiers: chr15:g.48796003del (hg19) chr15:g.48503806del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503806del , CM000677.2:g.48503806del GRCh38
NC_000015.9:g.48796003del , CM000677.1:g.48796003del GRCh37
NC_000015.8:g.46583295del NCBI36
NG_008805.2:g.146983del , LRG_778:g.146983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2094del ENSP00000453958.2:p.Cys699ValfsTer19
ENST00000674301.2:c.2094del ENSP00000501333.2:p.Cys699ValfsTer19
ENST00000684448.1:n.768del
ENST00000316623.10:c.2094del MANE Select ENSP00000325527.5:p.Cys699ValfsTer19
ENST00000316623.9:c.2094del ENSP00000325527.5:p.Cys699ValfsTer19
ENST00000537463.6:c.637-29156del ENSP00000440294.2:n.637-29156del
NM_000138.4:c.2094del , LRG_778t1:c.2094del NP_000129.3:p.Cys699ValfsTer19
NM_000138.5:c.2094del MANE Select NP_000129.3:p.Cys699ValfsTer19
Search 100 bp 5'
Search 100 bp 3'