WormBase Tree Display for Variation: WBVar00093809

WBVar00093809 Name: Public_name: ok2706
    Other_name: C54D1.3e.1:c.2033_3124+194del
      C54D1.3d.1:c.1763_2854+194del
      C54D1.3b.1:c.1748_2839+194del
      C54D1.3c.1:c.1478_2569+194del
    HGVSg: CHROMOSOME_X:g.7136188_7138060del
  Sequence_details: SMap: S_parent: Sequence: C54D1
    Flanking_sequences: GAAAAAATGGTTATGATGGAAGAACACACA TGTAGGAGTTCGAACATTAAAAAATTAAAA
    Mapping_target: C54D1
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00033295
    Laboratory: RB
    Person: WBPerson154
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00002163
    Transcript: C54D1.3e.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C54D1.3e.1:c.2033_3124+194del
        cDNA_position: 2033-?
        CDS_position: 2033-?
        Protein_position: 678-?
        Intron_number: 13-17/18
        Exon_number: 13-17/19
      C54D1.3d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C54D1.3d.1:c.1763_2854+194del
        cDNA_position: 1763-?
        CDS_position: 1763-?
        Protein_position: 588-?
        Intron_number: 12-16/17
        Exon_number: 12-16/18
      C54D1.3c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C54D1.3c.1:c.1478_2569+194del
        cDNA_position: 1533-?
        CDS_position: 1478-?
        Protein_position: 493-?
        Intron_number: 11-15/16
        Exon_number: 11-15/17
      C54D1.3b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C54D1.3b.1:c.1748_2839+194del
        cDNA_position: 1751-?
        CDS_position: 1748-?
        Protein_position: 583-?
        Intron_number: 12-16/18
        Exon_number: 12-16/19
  Isolation: Mutagen: EMS
    Reverse_genetics: PCR
  Genetics: Interpolated_map_position: X -1.82848
  Remark: I can send you the sequencing chromatogram if you think it can be of help.
    alt_det = removes several exons and introns (1873 bp deletion) mut_det =
    [210323 skd] Updated based on Allele Sequence confirmation form received by email. Person_evidence: WBPerson154
      Curator_confirmed: WBPerson51134
  Method: Deletion_allele