FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
CV Term Report
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General Information
Term frameshift_variant ID (Ontology) SO:0001589 (Sequence Ontology)
Definition A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three.
Also Known As "frameshift variant" ; "frameshift_" ; "frameshift_coding" (for all, see Synonyms field below)
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Links to External Ontologies
SO.org
Annotations
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 Alleles
 frameshift_variant (all annotations which use CV term, excluding "NOT" statements)      64
Spanning Tree (Parents/Children)
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  coding_sequence_variant
   |__protein_altering_variant
       |__frameshift_variant  112 rec.
           |__frame_restoring_variant 1 rec.
           |__frameshift_elongation 2 rec.
           |__frameshift_truncation 44 rec.
           |__frameshift_variant_NMD_escaping
           |__frameshift_variant_NMD_triggering
           |__minus_1_frameshift_variant 1 rec.
           |__minus_2_frameshift_variant
           |__plus_1_frameshift_variant 1 rec.
           |__plus_2_frameshift_variant
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Is a protein_altering_variant
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Synonyms
  • "ANNOVAR:frameshift block substitution" RELATED VAR
    "ANNOVAR:frameshift substitution" RELATED
    "frameshift variant" EXACT
    "frameshift_" EXACT dbsnp
    "frameshift_coding" EXACT ebi_variants
    "Jannovar:frameshift_variant" EXACT VAR
    "Seattleseq:frameshift" EXACT VAR
    "Seattleseq:frameshift-near-splice" RELATED VAR
    "snpEff:FRAME_SHIFT" EXACT VAR
    "VAAST:frameshift_variant" EXACT VAR
    "VAT:deletionFS" NARROW VAR
    "VAT:insertionFS" NARROW VAR
    "VEP:frameshift_variant" EXACT VAR
Secondary IDs
hide External Crossreferences & Linkouts
http://snp.gs.washington.edu/SeattleSeqAnnotation137/HelpHowToUse.jsp "Seattleseq"
http://snpeff.sourceforge.net/SnpEff_manual.html
http://vat.gersteinlab.org/formats.php "VAT"
http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences
loinc:LA6694-9 "Frameshift"