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Negative mane transcript positions #179

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korikuzma opened this issue Aug 1, 2023 · 1 comment
Open

Negative mane transcript positions #179

korikuzma opened this issue Aug 1, 2023 · 1 comment

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@korikuzma
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get_mane_transcript(
    "ENSP00000246785.2",
    53,
    "p",
    end_pos=53,
    try_longest_compatible=True,
    residue_mode=ResidueMode.RESIDUE.value,
    ref="G",
)

returns

{'gene': 'BCL2L12',
 'refseq': 'NP_619580.2',
 'ensembl': 'ENSP00000246784.4',
 'pos': (-32, -32),
 'strand': '+',
 'status': 'mane_select'}

The associated Clin Gen Allele Registry hgvs for the mane refseq accession is NP_619580.2:n.-96G>C. So not sure what the corresponding p. position would be.

@wesleygoar might need your help if you're familiar with n. reference sequences

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github-actions bot commented Jul 4, 2024

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