I am intrigued by your question " how many amino acids does the protein with the mutation p.(

Dear Johan, Thank you very much for your explanation. In the paper by Graca et al (PMID:35568682), it

Dear Richard, please note the description you give (NC_000007.14:g128675621C>CTTC) does not follow

Dear Teresa, HGVS nomenclature has been designed to unequivocally describe variants in DNA, RNA and

Dear Johan, Thank you very much for taking the time to explain the correct notation and for pointing

Dear Ketaki, sorry to be slow with this reply; an answer is not that simple. 1) you do not give the

Dear Hannah, following HGVS nomenclature, the variant should be described as NC_000007.14:g.

Dear Kerri, following HGVS nomenclature the variant should be described as NC_000012.12:g.

Dear Johan, Sincere apologies for omitting the NM_. and many many thanks for your help on this case.

thanks! O martes, 19 de maio de 2026 á/s 09:53:15 UTC+2, Johan den Dunnen escribiu: Dear Julio, yes,

Gracias! O xoves, 30 de abril de 2026 á/s 08:45:12 UTC+2, Johan den Dunnen escribiu: Dear julio,

Dear Lucy, the guidance on the website (https://hgvs-nomenclature.org/stable/recommendations/DNA/

Dear Maria, yes, when the variant was identified in homozygosity, following HGVS nomenclature "

Dear Dmitry, using HGVS nomenclature, LOH with a copy number change is described as a deletion. As

Dear Hajar, I am not sure what information you need. HGVS nomenclature is a standard to report

Dear Simona, indeed, following HGVS nomenclature the variant should be described as NC_000006.12:g.

Hi Manuel- Yes, a variant that inserts or deletes sequence in the context of a repeated region is

Dear Fatima, that's up to you, you add the predicted consequences. When you are quite sure the

Thank you all for your ongoing support. I am exploring ways to incorporate HGVS nomenclature into a

Dear Deivid, HGVS nomenclature is about describing variants. HGVS nomenclature is not about how to

Dear Laura, not sure what you mean. Following HGVS nomenclature (see the Uncertain page, hgvs-

Dear Julio, as explained on the HGVS nomenclature "Uncertain" page (https://hgvs-

Dear Mihai, when there is a large deletion in which part of the deleted region is inserted in an

Dear Mart, following HGVS nomenclature, the JAK2 case can be best described as NC_000009.12:g.[

Dear Claudia, following HGVS nomenclature, the correct description of the variant is NC_000013.11:g.

Dear Peter, indeed, the description of the MLPA-detected deletion/duplication variants is influenced

Hi Johan - I just wanted to check one last time on potential availability of the old quiz content and

Dear Minh-Duc, > The motivation behind the change in normalisation format in Mutalyzer. I can not

Dear Lorena, following HGVS nomenclature all variants should be described at genomic level,

Dear Ana, following current recommendations the variant can be described as NC_000005.10:g.[