Canonical Allele Identifier: CA915946583
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 811720
ClinVar RCV Id: RCV001002018
dbSNP Id: rs1597563323
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487431_48487433del , CM000677.2:g.48487431_48487433del GRCh38
NC_000015.9:g.48779628_48779630del , CM000677.1:g.48779628_48779630del GRCh37
NC_000015.8:g.46566920_46566922del NCBI36
NG_008805.2:g.163359_163361del , LRG_778:g.163359_163361del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3345_3347del ENSP00000453958.2:p.Asp1115del
ENST00000674301.2:c.3345_3347del ENSP00000501333.2:p.Asp1115del
ENST00000684448.1:n.2019_2021del
ENST00000316623.10:c.3345_3347del MANE Select ENSP00000325527.5:p.Asp1115del
ENST00000316623.9:c.3345_3347del ENSP00000325527.5:p.Asp1115del
ENST00000537463.6:c.637-12780_637-12778del ENSP00000440294.2:n.637-12780_637-12778del
NM_000138.4:c.3345_3347del , LRG_778t1:c.3345_3347del NP_000129.3:p.Asp1115del
NM_000138.5:c.3345_3347del MANE Select NP_000129.3:p.Asp1115del
Search 100 bp 5'
Search 100 bp 3'