WormBase Tree Display for Variation: WBVar00143897
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WBVar00143897 | Evidence | Paper_evidence | WBPaper00002007 | ||
---|---|---|---|---|---|
Name | Public_name | e1294 | |||
Other_name | C27H6.1c.1:c.1640dup | ||||
CE45344:p.Arg921LysfsTer18 | |||||
C27H6.1a.1:c.2759dup | |||||
C27H6.1b.1:c.1913dup | |||||
CE45373:p.Arg639LysfsTer18 | |||||
CE45298:p.Arg548LysfsTer18 | |||||
HGVSg | CHROMOSOME_V:g.9969770_9969771insG | ||||
Sequence_details | SMap | S_parent | Sequence | C27H6 | |
Flanking_sequences | AAGAGTAGATTCAGCATCTGCGATTCCCCC | AAGAAAGAGAAGTTCAATAAAAGATGTTCA | |||
Mapping_target | C27H6 | ||||
Type_of_mutation | Insertion | c | |||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | CB | ||||
Status | Live | ||||
Affects | Gene | WBGene00006777 | |||
Transcript | C27H6.1b.1 | VEP_consequence | frameshift_variant | ||
VEP_impact | HIGH | ||||
HGVSc | C27H6.1b.1:c.1913dup | ||||
HGVSp | CE45373:p.Arg639LysfsTer18 | ||||
cDNA_position | 1913-1914 | ||||
CDS_position | 1913-1914 | ||||
Protein_position | 638 | ||||
Exon_number | 6/11 | ||||
Codon_change | cca/ccCa | ||||
Amino_acid_change | P/PX | ||||
C27H6.1a.1 | VEP_consequence | frameshift_variant | |||
VEP_impact | HIGH | ||||
HGVSc | C27H6.1a.1:c.2759dup | ||||
HGVSp | CE45344:p.Arg921LysfsTer18 | ||||
cDNA_position | 2771-2772 | ||||
CDS_position | 2759-2760 | ||||
Protein_position | 920 | ||||
Exon_number | 9/14 | ||||
Codon_change | cca/ccCa | ||||
Amino_acid_change | P/PX | ||||
C27H6.1c.1 | VEP_consequence | frameshift_variant | |||
VEP_impact | HIGH | ||||
HGVSc | C27H6.1c.1:c.1640dup | ||||
HGVSp | CE45298:p.Arg548LysfsTer18 | ||||
cDNA_position | 1640-1641 | ||||
CDS_position | 1640-1641 | ||||
Protein_position | 547 | ||||
Exon_number | 4/8 | ||||
Codon_change | cca/ccCa | ||||
Amino_acid_change | P/PX | ||||
Genetics | Interpolated_map_position | V | 2.22289 | ||
Reference | WBPaper00002007 | ||||
Method | Insertion_allele |