Canonical Allele Identifier: CA2573054038
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1322890
ClinVar RCV Id: RCV001783265
dbSNP Id: rs2141289602
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483852del , CM000677.2:g.48483852del GRCh38
NC_000015.9:g.48776049del , CM000677.1:g.48776049del GRCh37
NC_000015.8:g.46563341del NCBI36
NG_008805.2:g.166937del , LRG_778:g.166937del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3804del ENSP00000453958.2:p.Phe1269SerfsTer7
ENST00000674301.2:c.3804del ENSP00000501333.2:p.Phe1269SerfsTer7
ENST00000684448.1:n.2478del
ENST00000316623.10:c.3804del MANE Select ENSP00000325527.5:p.Phe1269SerfsTer7
ENST00000316623.9:c.3804del ENSP00000325527.5:p.Phe1269SerfsTer7
ENST00000537463.6:c.637-9202del ENSP00000440294.2:n.637-9202del
NM_000138.4:c.3804del , LRG_778t1:c.3804del NP_000129.3:p.Phe1269SerfsTer7
NM_000138.5:c.3804del MANE Select NP_000129.3:p.Phe1269SerfsTer7
Search 100 bp 5'
Search 100 bp 3'