Canonical Allele Identifier: CA658824437
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549178
ClinVar RCV Id: RCV000663657 RCV002458179
dbSNP Id: rs1555398404
MyVariant Identifiers: chr15:g.48777649_48777651del (hg19) chr15:g.48485452_48485454del (hg38)
ERepo: CA658824437/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485454_48485456del , CM000677.2:g.48485454_48485456del GRCh38
NC_000015.9:g.48777651_48777653del , CM000677.1:g.48777651_48777653del GRCh37
NC_000015.8:g.46564943_46564945del NCBI36
NG_008805.2:g.165335_165337del , LRG_778:g.165335_165337del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3632_3634del ENSP00000453958.2:p.Phe1211del
ENST00000674301.2:c.3632_3634del ENSP00000501333.2:p.Phe1211del
ENST00000684448.1:n.2306_2308del
ENST00000316623.10:c.3632_3634del MANE Select ENSP00000325527.5:p.Phe1211del
ENST00000316623.9:c.3632_3634del ENSP00000325527.5:p.Phe1211del
ENST00000537463.6:c.637-10804_637-10802del ENSP00000440294.2:n.637-10804_637-10802del
NM_000138.4:c.3632_3634del , LRG_778t1:c.3632_3634del NP_000129.3:p.Phe1211del
NM_000138.5:c.3632_3634del MANE Select NP_000129.3:p.Phe1211del
Search 100 bp 5'
Search 100 bp 3'