mtDNA Allele Examples

  • This page gives guidelines for describing mtDNA variants
  • Examples have the reference sequence on top and the variant sequence on the bottom


Example 1: A-G polymorphism at position 6

1 2 3 4 5 6 7 8 9 10
G A T C A C A G G T
G A T C A G A G G T


Example 2: 2bp deletion beginning at position 314

311 312 313 314 315 316 317 318 319 320
C C C C C G C T T C
C C C - - G C T T C
Note that convention is to describe the deletion as occurring at the end of the run of Cs.
Contiguous deletions, as in this example, are assumed to be part of the same deletion event.


Example 3: 2bp insertion after position 315

311 312 313 314 315 316 317 318 319 320
C C C C C - - G C T T C
C C C C C C C G C T T C
Note that convention is to describe the insertion as occurring at the end of the run of Cs.
Contiguous insertions, as in this example, are assumed to be part of the same insertion event.
Topic revision: r1 - 12 Feb 2016, MartyBrandon
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