Canonical Allele Identifier: CA915946639
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 684766
ClinVar RCV Id: RCV000845264
dbSNP Id: rs1597520619
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430710del , CM000677.2:g.48430710del GRCh38
NC_000015.9:g.48722907del , CM000677.1:g.48722907del GRCh37
NC_000015.8:g.46510199del NCBI36
NG_008805.2:g.220081del , LRG_778:g.220081del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6834del ENSP00000453958.2:p.Tyr2280IlefsTer11
ENST00000674301.2:c.*285del ENSP00000501333.2:n.*285del
ENST00000682170.1:n.443del
ENST00000316623.10:c.6834del MANE Select ENSP00000325527.5:p.Tyr2280IlefsTer11
ENST00000674301.1:c.1938del ENSP00000501333.1:n.1938del
ENST00000316623.9:c.6834del ENSP00000325527.5:p.Tyr2280IlefsTer11
ENST00000559133.5:c.2141del
ENST00000560720.1:n.121del
NM_000138.4:c.6834del , LRG_778t1:c.6834del NP_000129.3:p.Tyr2280IlefsTer11
NM_000138.5:c.6834del MANE Select NP_000129.3:p.Tyr2280IlefsTer11
Search 100 bp 5'
Search 100 bp 3'