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_000004.12:g.16601154_16601156delinsCAA , CM000666.2:g.16601154_16601156delinsCAA | GRCh38 |
| NC_000004.11:g.16602777_16602779delinsCAA , CM000666.1:g.16602777_16602779delinsCAA | GRCh37 |
| NC_000004.10:g.16211875_16211877delinsCAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304523.10:c.236-5281_236-5279delinsTTG MANE Select | ENSP00000306772.5:n.236-5281_236-5279deli... | |
| ENST00000304523.9:c.236-5281_236-5279delinsTTG | ENSP00000306772.5:n.236-5281_236-5279deli... | |
| ENST00000441778.6:c.236-5281_236-5279delinsTTG | ENSP00000392089.2:n.236-5281_236-5279deli... | |
| ENST00000502640.5:c.236-5281_236-5279delinsTTG | ENSP00000423963.1:n.236-5281_236-5279deli... | |
| ENST00000503153.5:n.94-5281_94-5279delinsTTG | ||
| ENST00000503829.5:n.258-5281_258-5279delinsTTG | ||
| ENST00000504886.5:n.223-5281_223-5279delinsTTG | ||
| ENST00000506732.1:c.164-5281_164-5279delinsTTG | ENSP00000421767.1:n.164-5281_164-5279deli... | |
| ENST00000508804.5:n.219-5281_219-5279delinsTTG | ||
| ENST00000508918.5:c.*23-5281_*23-5279delinsTTG | ENSP00000424770.1:n.*23-5281_*23-5279deli... | |
| ENST00000512345.5:c.288-5281_288-5279delinsTTG | ENSP00000424676.1:n.288-5281_288-5279deli... | |
| ENST00000513457.5:n.235-5281_235-5279delinsTTG | ||
| ENST00000515064.5:c.236-5281_236-5279delinsTTG | ENSP00000422552.1:n.236-5281_236-5279deli... | |
| NM_001130834.2:c.236-5281_236-5279delinsTTG | NP_001124306.1:n.236-5281_236-5279delinsT... | |
| NM_001290.4:c.236-5281_236-5279delinsTTG | NP_001281.1:n.236-5281_236-5279delinsTTG | |
| NM_001304434.1:c.236-5281_236-5279delinsTTG | NP_001291363.1:n.236-5281_236-5279delinsT... | |
| NM_001304435.1:c.236-5281_236-5279delinsTTG | NP_001291364.1:n.236-5281_236-5279delinsT... | |
| XM_005248197.2:c.236-5281_236-5279delinsTTG | XP_005248254.1:n.236-5281_236-5279delinsT... | |
| XM_005248201.2:c.236-5281_236-5279delinsTTG | XP_005248258.1:n.236-5281_236-5279delinsT... | |
| XM_005248202.2:c.236-5281_236-5279delinsTTG | XP_005248259.1:n.236-5281_236-5279delinsT... | |
| XM_006713975.2:c.350-5281_350-5279delinsTTG | XP_006714038.1:n.350-5281_350-5279delinsT... | |
| XM_006713976.2:c.350-5281_350-5279delinsTTG | XP_006714039.1:n.350-5281_350-5279delinsT... | |
| XM_006713977.2:c.350-5281_350-5279delinsTTG | XP_006714040.1:n.350-5281_350-5279delinsT... | |
| XM_006713978.2:c.350-5281_350-5279delinsTTG | XP_006714041.1:n.350-5281_350-5279delinsT... | |
| XM_006713979.2:c.350-5281_350-5279delinsTTG | XP_006714042.1:n.350-5281_350-5279delinsT... | |
| XM_006713980.2:c.350-5281_350-5279delinsTTG | XP_006714043.1:n.350-5281_350-5279delinsT... | |
| XM_006713981.2:c.350-5281_350-5279delinsTTG | XP_006714044.1:n.350-5281_350-5279delinsT... | |
| XM_006713982.2:c.350-5281_350-5279delinsTTG | XP_006714045.1:n.350-5281_350-5279delinsT... | |
| XM_006713983.2:c.350-5281_350-5279delinsTTG | XP_006714046.1:n.350-5281_350-5279delinsT... | |
| XM_011513905.1:c.11-5281_11-5279delinsTTG | XP_011512207.1:n.11-5281_11-5279delinsTTG... | |
| XM_005248197.4:c.236-5281_236-5279delinsTTG | XP_005248254.1:n.236-5281_236-5279delinsT... | |
| XM_005248201.3:c.236-5281_236-5279delinsTTG | XP_005248258.1:n.236-5281_236-5279delinsT... | |
| XM_005248202.3:c.236-5281_236-5279delinsTTG | XP_005248259.1:n.236-5281_236-5279delinsT... | |
| XM_006713975.4:c.350-5281_350-5279delinsTTG | XP_006714038.1:n.350-5281_350-5279delinsT... | |
| XM_006713976.4:c.350-5281_350-5279delinsTTG | XP_006714039.1:n.350-5281_350-5279delinsT... | |
| XM_006713977.4:c.350-5281_350-5279delinsTTG | XP_006714040.1:n.350-5281_350-5279delinsT... | |
| XM_006713978.4:c.350-5281_350-5279delinsTTG | XP_006714041.1:n.350-5281_350-5279delinsT... | |
| XM_006713979.4:c.350-5281_350-5279delinsTTG | XP_006714042.1:n.350-5281_350-5279delinsT... | |
| XM_006713980.4:c.350-5281_350-5279delinsTTG | XP_006714043.1:n.350-5281_350-5279delinsT... | |
| XM_006713981.4:c.350-5281_350-5279delinsTTG | XP_006714044.1:n.350-5281_350-5279delinsT... | |
| XM_006713982.4:c.350-5281_350-5279delinsTTG | XP_006714045.1:n.350-5281_350-5279delinsT... | |
| XM_006713983.4:c.350-5281_350-5279delinsTTG | XP_006714046.1:n.350-5281_350-5279delinsT... | |
| XM_011513905.2:c.11-5281_11-5279delinsTTG | XP_011512207.1:n.11-5281_11-5279delinsTTG... | |
| XM_017008812.2:c.350-5281_350-5279delinsTTG | XP_016864301.1:n.350-5281_350-5279delinsT... | |
| XM_017008813.2:c.236-5281_236-5279delinsTTG | XP_016864302.1:n.236-5281_236-5279delinsT... | |
| XM_017008814.2:c.350-5281_350-5279delinsTTG | XP_016864303.1:n.350-5281_350-5279delinsT... | |
| XM_017008815.2:c.350-5281_350-5279delinsTTG | XP_016864304.1:n.350-5281_350-5279delinsT... | |
| XM_017008816.2:c.350-5281_350-5279delinsTTG | XP_016864305.1:n.350-5281_350-5279delinsT... | |
| XM_017008817.2:c.236-5281_236-5279delinsTTG | XP_016864306.1:n.236-5281_236-5279delinsT... | |
| XM_017008818.1:c.107-5281_107-5279delinsTTG | XP_016864307.1:n.107-5281_107-5279delinsT... | |
| XM_017008819.2:c.236-5281_236-5279delinsTTG | XP_016864308.1:n.236-5281_236-5279delinsT... | |
| XM_017008820.2:c.236-5281_236-5279delinsTTG | XP_016864309.1:n.236-5281_236-5279delinsT... | |
| XM_017008821.2:c.236-5281_236-5279delinsTTG | XP_016864310.1:n.236-5281_236-5279delinsT... | |
| XM_017008822.1:c.-137-5281_-137-5279delinsTTG | XP_016864311.1:n.-137-5281_-137-5279delin... | |
| XM_024454278.1:c.236-5281_236-5279delinsTTG | XP_024310046.1:n.236-5281_236-5279delinsT... | |
| XM_024454279.1:c.-137-5281_-137-5279delinsTTG | XP_024310047.1:n.-137-5281_-137-5279delin... | |
| XM_024454280.1:c.-137-5281_-137-5279delinsTTG | XP_024310048.1:n.-137-5281_-137-5279delin... | |
| NM_001290.5:c.236-5281_236-5279delinsTTG MANE Select | NP_001281.1:n.236-5281_236-5279delinsTTG | |
| NM_001130834.3:c.236-5281_236-5279delinsTTG | NP_001124306.1:n.236-5281_236-5279delinsT... | |
| NM_001304434.2:c.236-5281_236-5279delinsTTG | NP_001291363.1:n.236-5281_236-5279delinsT... | |
| NM_001304435.2:c.236-5281_236-5279delinsTTG | NP_001291364.1:n.236-5281_236-5279delinsT... |