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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810447_88810701delinsGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCC , CM000678.2:g.88810447_88810701delinsGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCC | GRCh38 |
| NC_000016.9:g.88876855_88877109delinsGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCC , CM000678.1:g.88876855_88877109delinsGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCC | GRCh37 |
| NC_000016.8:g.87404356_87404610delinsGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCC | NCBI36 |
| NG_008013.1:g.6234_6488delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | |
| NG_028266.1:g.11670_11924delinsGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378364.8:c.188-145_297delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ||
| ENST00000378364.7:c.188-145_297delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ||
| ENST00000426324.6:c.188-145_297delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ||
| ENST00000562464.1:n.332-553_332-299delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ||
| ENST00000563655.5:c.241-553_241-299delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ENSP00000456012.1:n.241-553_241-299delins... | |
| ENST00000567391.5:c.188-553_188-299delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ENSP00000457964.1:n.188-553_188-299delins... | |
| ENST00000567713.5:c.188-145_297delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ||
| ENST00000568319.5:c.188-553_188-299delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ENSP00000456905.1:n.188-553_188-299delins... | |
| ENST00000569616.1:c.186-145_295delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ||
| NM_000485.2:c.188-145_297delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ||
| NM_001030018.1:c.188-145_297delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ||
| NM_000485.3:c.188-145_297delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC | ||
| NM_001030018.2:c.188-145_297delinsGGGTAGGTGATGGGTAACATTCCTTAAATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCAACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCC |