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HGVSnomenclature / hgvs-nomenclature

HGVS Nomenclature website
https://hgvs-nomenclature.org/
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Are X and Y allelic #170

Open jtdendunnen opened 7 months ago

jtdendunnen commented 7 months ago

From the ISCN committee we received the question whether the X and Y chromosome are considered to be the 'same chromosome pair'. In other words, is [NC_000023.11:g.630976G>T];[NC_000024.10:g.630918del] a correct allele description for two variants in the SHOX gene on resp. the X and Y chromosomes?

ifokkema commented 7 months ago

This is related to https://github.com/HGVSnomenclature/hgvs-nomenclature/issues/58, which is still open as there's no agreement on whether an allele syntax with multiple reference sequences should be allowed. That depends on how the documentation is interpreted, as well as whether examples given in answers to questions are part of the HGVS nomenclature.