WormBase Tree Display for Variation: WBVar02104389
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WBVar02104389 | Name | Public_name | WBVar02104389 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | cewivar00834723 | |||||||
C49G7.10a.1:c.515_540delinsTAAAACTAAAAAATGCCGAAAACCCT | ||||||||
CE42293:p.Ser172_Lys179delinsLeuLysLeuLysAsnAlaGluAsn | ||||||||
C49G7.10b.1:c.398_423delinsTAAAACTAAAAAATGCCGAAAACCCT | ||||||||
CE51587:p.Ser133_Lys140delinsLeuLysLeuLysAsnAlaGluAsn | ||||||||
HGVSg | CHROMOSOME_V:g.4040844_4040869delinsAGGGTTTTCGGCATTTTTTAGTTTTA | |||||||
Sequence_details | SMap | S_parent | Sequence | C49G7 | ||||
Flanking_sequences | GTACGCAACTTTGGCATTCTGATACAGCTC | AAGGAGATCGATTTTCAGGTTGAAGACTTT | ||||||
Mapping_target | C49G7 | |||||||
Source_location | 225 | CHROMOSOME_V | 4040829 | 4040854 | From_analysis | Million_mutation_project_reanalysis | ||
Type_of_mutation | Insertion | AGGGTTTTCGGCATTTTTTAGTTTTA | ||||||
Deletion | ||||||||
SeqStatus | Sequenced | |||||||
Variation_type | Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00023139 | From_analysis | Million_mutation_project_reanalysis | |||||
Laboratory | VC | |||||||
Analysis | Million_mutation_project_reanalysis | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00016788 | ||||||
Transcript | C49G7.10b.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
HGVSc | C49G7.10b.1:c.398_423delinsTAAAACTAAAAAATGCCGAAAACCCT | |||||||
HGVSp | CE51587:p.Ser133_Lys140delinsLeuLysLeuLysAsnAlaGluAsn | |||||||
cDNA_position | 398-424 | |||||||
CDS_position | 398-424 | |||||||
Protein_position | 133-142 | |||||||
Exon_number | 2/3 | |||||||
Codon_change | tCAAAATCAAAAAGTGCCAAAAAGCCGGag/tTAAAACTAAAAAATGCCGAAAACCCTGag | |||||||
Amino_acid_change | SKSKSAKKPE/LKLKNAENPE | |||||||
C49G7.10a.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | C49G7.10a.1:c.515_540delinsTAAAACTAAAAAATGCCGAAAACCCT | |||||||
HGVSp | CE42293:p.Ser172_Lys179delinsLeuLysLeuLysAsnAlaGluAsn | |||||||
cDNA_position | 545-571 | |||||||
CDS_position | 515-541 | |||||||
Protein_position | 172-181 | |||||||
Exon_number | 4/6 | |||||||
Codon_change | tCAAAATCAAAAAGTGCCAAAAAGCCGGag/tTAAAACTAAAAAATGCCGAAAACCCTGag | |||||||
Amino_acid_change | SKSKSAKKPE/LKLKNAENPE | |||||||
Method | WGS_Flibotte |