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/.
Hello. I was recently evaluating the normalization of the protein allele NP_004439.2:p.Ala775_Gly776insTyrValMetAla. This is a common unnormalized protein representation of ClinGen allele CA135369.
The normalized version of this is supposed to be NP_004439.2:p.Y772_A775dup, but instead is reported by the allele registry as NP_004439.2:p.Ala772_Met775dup.
It appears that while the AA coordinates are correct (a duplication of 772 to 775), the reported reference amino acids are incorrect (they are left-shifted by one position).
Hello. I was recently evaluating the normalization of the protein allele
NP_004439.2:p.Ala775_Gly776insTyrValMetAla. This is a common unnormalized protein representation of ClinGen allele CA135369.The normalized version of this is supposed to be
NP_004439.2:p.Y772_A775dup, but instead is reported by the allele registry as NP_004439.2:p.Ala772_Met775dup.It appears that while the AA coordinates are correct (a duplication of 772 to 775), the reported reference amino acids are incorrect (they are left-shifted by one position).