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BRL-BCM / Allele-Registry

This repository contains the source code for the ClinGen Allele Registry. The Allele Registry provides unique identifiers for alleles. It can be accessed at https://reg.genome.network/.
GNU Affero General Public License v3.0
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off-by-one MANE Transcript #4

Closed korikuzma closed 3 years ago

korikuzma commented 3 years ago

I have been using the API with this request: https://reg.genome.network/allele?hgvs=NM_004448.3:c.2263_2277del

I believe that NM_004448.3:c.2263_2277del should return NM_004448.4:c.2263_2277del rather than NM_004448.4:c.2264_2278del.

The sequences for NM_004448.3:c.2263_2277del and NM_004448.4:c.2263_2277del are both TTGAGGGAAAACACA, whereas NM_004448.4:c.2264_2278del has TGAGGGAAAACACAT as a sequence which is not the same as the original query.

If I am wrong can you please explain why the MANE Transcript is shifted over one position. TIA

korikuzma commented 3 years ago

Closing this since the shift is due to right-shift normalizing.