delins [SO_1000032]
A sequence alteration which included an insertion and a deletion, affecting 2 or more bases. Indels can have a different number of bases than the corresponding reference sequence. The term name was changed from indel to delins on 2/24/2019 to align with the HGVS nomenclature term for a deletion-insertion. Indel was causing confusion in the annotation community (github issue 445). The HGVS nomenclature definition of deletion-insertion (delins) is a sequence change where, compared to a reference sequence, one or more nucleotides are replaced by one or more other nucleotides and which is not a substitution, inversion or conversion. Indels can have a different number of bases than the corresponding reference sequence.
Note
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"short_form": "SO_1000032",
"label": "delins"
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"description": [
"A sequence alteration which included an insertion and a deletion, affecting 2 or more bases."
],
"comment": [
"Indels can have a different number of bases than the corresponding reference sequence. The term name was changed from indel to delins on 2/24/2019 to align with the HGVS nomenclature term for a deletion-insertion. Indel was causing confusion in the annotation community (github issue 445). The HGVS nomenclature definition of deletion-insertion (delins) is a sequence change where, compared to a reference sequence, one or more nucleotides are replaced by one or more other nucleotides and which is not a substitution, inversion or conversion.",
"Indels can have a different number of bases than the corresponding reference sequence."
]
},
"query": "Get JSON for Class",
"version": "44725ae",
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