WormBase Tree Display for Variation: WBVar00145027
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WBVar00145027 | Evidence | Paper_evidence | WBPaper00028462 | |||
---|---|---|---|---|---|---|
Name | Public_name | e2831 | ||||
Other_name (14) | ||||||
HGVSg | CHROMOSOME_X:g.10106837_10107103delinsGTAGCA | |||||
Sequence_details | SMap | S_parent | Sequence | T06H11 | ||
Flanking_sequences | ggaaaggttttctcagtagcattcgcgctt | cccaataggtacctattttggtttattgat | ||||
Mapping_target | T06H11 | |||||
Type_of_mutation | Insertion | tgctact | Paper_evidence | WBPaper00028462 | ||
Deletion | ||||||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Laboratory | CB | |||||
Status | Live | |||||
Affects | Gene | WBGene00006792 | ||||
Transcript | T06H11.1b.1 (11) | |||||
T06H11.1g.1 (11) | ||||||
T06H11.1f.1 (11) | ||||||
T06H11.1e.1 (11) | ||||||
T06H11.1d.1 (11) | ||||||
T06H11.1a.1 (11) | ||||||
T06H11.1c.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,frameshift_variant,stop_lost,intron_variant | ||||
VEP_impact | HIGH | |||||
HGVSc | T06H11.1c.1:c.748_967delinsTGCTAC | |||||
HGVSp | CE53306:p.Val250CysfsTer5 | |||||
cDNA_position | 838-1058 | |||||
CDS_position | 748-968 | |||||
Protein_position | 250-323 | |||||
Intron_number | 6/13 | |||||
Exon_number | 6-7/14 | |||||
Codon_change | GTTGGTATACCACTTATGTTCATAACAGCTGCCGATATTGGTAAATTTTTATCTGAAACATTACTCCAGTTTGTGAGCTTTTGGAATCGAAGTGTCCGAAAAGTGAAGGTAAATATATTGATTTTGATTAACAAGAACTAATATTAGTTCTTTAGCAATGGATGAGTCGTATTCGTCACGGCAGGAGAAAGTCATTACAATCAACGGGTGGTCCCAACGATACTCTCGATATTCTTGGTGTCGACGGAACTGAAGAGAAACTTTGGTTc/TGCTACTc | |||||
Amino_acid_change | VGIPLMFITAADIGKFLSETLLQFVSFWNRSVRKVKVNILILINKN*Y*FFSNG*VVFVTAGESHYNQRVVPTILSIFLVSTELKRNFGX/CYX | |||||
Genetics | Interpolated_map_position | X | 1.74742 | |||
Reference | WBPaper00028462 | |||||
Method | Deletion_and_insertion_allele |