WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.22325559C= | CA2471122240 | RBMY1J | c.-5+16589C= (n.-5+16589C=) | |
| Y | g.22325559C>G | CA337557730 | RBMY1J | c.-5+16589C>G (n.-5+16589C>G) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.22325561G>A | CA2515511311 | RBMY1J | c.-5+16591G>A (n.-5+16591G>A) | |
| Y | g.22325567T>C | CA2739230544 | RBMY1J | c.-5+16597T>C (n.-5+16597T>C) | dbSNP |
| Y | g.22325617C>A | CA2555032198 | RBMY1J | c.-5+16647C>A (n.-5+16647C>A) | |
| Y | g.22325619_22325620insGCCAGCG | CA2516895679 | RBMY1J | c.-5+16649_-5+16650insGCCAGCG (n.-5+16649_-5+16650insGCCAGCG) | |
| Y | g.22325619_22325620insGCCAACGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCT | CA2553440323 | RBMY1J | c.-5+16649_-5+16650insGCCAACGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCT (n.-5+16649_-5+16650insGCCAACGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCT) | |
| Y | g.22325619_22325620insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCACTTTTTCACTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC | CA2563032045 | RBMY1J | c.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCACTTTTTCACTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC (n.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCACTTTTTCACTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC) | |
| Y | g.22325619_22325620insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCACTTTTTCATCGCCGATCAGCTTAGCAATTACTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC | CA2515795961 | RBMY1J | c.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCACTTTTTCATCGCCGATCAGCTTAGCAATTACTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC (n.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCACTTTTTCATCGCCGATCAGCTTAGCAATTACTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC) | |
| Y | g.22325619_22325620insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCATTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC | CA2540701581 | RBMY1J | c.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCATTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC (n.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCATTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC) | |
| Y | g.22325619_22325620insGCCAACGTCAACTCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCCCGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCACCTCCACTTGGCAAAC | CA2512559227 | RBMY1J | c.-5+16649_-5+16650insGCCAACGTCAACTCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCCCGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCACCTCCACTTGGCAAAC (n.-5+16649_-5+16650insGCCAACGTCAACTCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCCCGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCACCTCCACTTGGCAAAC) | |
| Y | g.22325619_22325620insGCCAACGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCATAAAGAAGATAAATCACTTGATTTCCACCTGACAGGC | CA2502128248 | RBMY1J | c.-5+16649_-5+16650insGCCAACGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCATAAAGAAGATAAATCACTTGATTTCCACCTGACAGGC (n.-5+16649_-5+16650insGCCAACGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCATAAAGAAGATAAATCACTTGATTTCCACCTGACAGGC) | |
| Y | g.22325619_22325620insGCCAGCGTCAAATCTTCACCATCCTGTCGCGCCACTTTTTCACTGCCGATCAGCTTAGCAATTGCTCGCCGTTTTTCAAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC | CA2499653962 | RBMY1J | c.-5+16649_-5+16650insGCCAGCGTCAAATCTTCACCATCCTGTCGCGCCACTTTTTCACTGCCGATCAGCTTAGCAATTGCTCGCCGTTTTTCAAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC (n.-5+16649_-5+16650insGCCAGCGTCAAATCTTCACCATCCTGTCGCGCCACTTTTTCACTGCCGATCAGCTTAGCAATTGCTCGCCGTTTTTCAAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC) | |
| Y | g.22325619_22325620insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCACTTTTTCATTGCCGATCAGCTTAGCAATTACTTGCCGTTTCTCGAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC | CA2510894770 | RBMY1J | c.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCACTTTTTCATTGCCGATCAGCTTAGCAATTACTTGCCGTTTCTCGAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC (n.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCACTTTTTCATTGCCGATCAGCTTAGCAATTACTTGCCGTTTCTCGAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC) | |
| Y | g.22325619_22325620insACCAGCGTCAACTCTTCGCCATTATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCCCGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC | CA2567177456 | RBMY1J | c.-5+16649_-5+16650insACCAGCGTCAACTCTTCGCCATTATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCCCGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC (n.-5+16649_-5+16650insACCAGCGTCAACTCTTCGCCATTATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCCCGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC) | |
| Y | g.22325619_22325620insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC | CA2563032783 | RBMY1J | c.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC (n.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC) | |
| Y | g.22325619_22325620insGCCAGCGTCAACTCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCCCGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAAGTAAATCATTTGATTTCCACCTGGCAGAC | CA2540701582 | RBMY1J | c.-5+16649_-5+16650insGCCAGCGTCAACTCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCCCGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAAGTAAATCATTTGATTTCCACCTGGCAGAC (n.-5+16649_-5+16650insGCCAGCGTCAACTCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCCCGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAAGTAAATCATTTGATTTCCACCTGGCAGAC) | |
| Y | g.22325619_22325620insGCCAACGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCAATCAGCTTAGCAATTGCTTGCCGTTTTTCAAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC | CA2544779424 | RBMY1J | c.-5+16649_-5+16650insGCCAACGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCAATCAGCTTAGCAATTGCTTGCCGTTTTTCAAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC (n.-5+16649_-5+16650insGCCAACGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCAATCAGCTTAGCAATTGCTTGCCGTTTTTCAAATTCGTTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC) | |
| Y | g.22325619_22325620insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCATTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGATAGATCACTTCGCCTCCACTTGGCAAAC | CA2539980997 | RBMY1J | c.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCATTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGATAGATCACTTCGCCTCCACTTGGCAAAC (n.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCATTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGATAGATCACTTCGCCTCCACTTGGCAAAC) | |
| Y | g.22325620_22325624del | CA2538293982 | RBMY1J | c.-5+16650_-5+16654del (n.-5+16650_-5+16654del) | |
| Y | g.22325620_22325621insCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCACCTCCACTTGGC | CA2556214920 | RBMY1J | c.-5+16650_-5+16651insCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCACCTCCACTTGGC (n.-5+16650_-5+16651insCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCACCTCCACTTGGC) | |
| Y | g.22325626A>C | CA2502667813 | RBMY1J | c.-5+16656A>C (n.-5+16656A>C) |