UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32978716_32978717delinsAT , CM000671.2:g.32978716_32978717delinsAT | GRCh38 |
| NC_000009.11:g.32978714_32978715delinsAT , CM000671.1:g.32978714_32978715delinsAT | GRCh37 |
| NC_000009.10:g.32968714_32968715delinsAT | NCBI36 |
| NG_012821.1:g.27912_27913delinsAT | |
| NG_012821.2:g.51415_51416delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309615.8:c.609-4156_609-4155delinsAT | ENSP00000311547.4:n.609-4156_609-4155delinsAT | |
| ENST00000379817.7:c.771-4156_771-4155delinsAT MANE Select | ENSP00000369145.2:n.771-4156_771-4155delinsAT | |
| ENST00000379819.6:c.771-4156_771-4155delinsAT | ENSP00000369147.2:n.771-4156_771-4155delinsAT | |
| ENST00000379825.7:c.771-4156_771-4155delinsAT | ENSP00000369153.3:n.771-4156_771-4155delinsAT | |
| ENST00000397172.8:c.555-4156_555-4155delinsAT | ENSP00000380357.4:n.555-4156_555-4155delinsAT | |
| ENST00000436040.7:c.609-4156_609-4155delinsAT | ENSP00000400806.4:n.609-4156_609-4155delinsAT | |
| ENST00000460940.6:c.*389-4156_*389-4155delinsAT | ENSP00000418311.1:n.*389-4156_*389-4155delinsAT | |
| ENST00000463596.6:c.771-4156_771-4155delinsAT | ENSP00000419846.1:n.771-4156_771-4155delinsAT | |
| ENST00000465003.6:c.*501-4156_*501-4155delinsAT | ENSP00000419430.2:n.*501-4156_*501-4155delinsAT | |
| ENST00000467331.6:c.*616-4156_*616-4155delinsAT | ENSP00000418733.1:n.*616-4156_*616-4155delinsAT | |
| ENST00000468275.6:c.771-4156_771-4155delinsAT | ENSP00000420263.2:n.771-4156_771-4155delinsAT | |
| ENST00000472896.6:c.*565-4156_*565-4155delinsAT | ENSP00000417804.2:n.*565-4156_*565-4155delinsAT | |
| ENST00000474658.7:c.*214-4156_*214-4155delinsAT | ENSP00000417750.3:n.*214-4156_*214-4155delinsAT | |
| ENST00000476858.6:c.609-4156_609-4155delinsAT | ENSP00000419042.2:n.609-4156_609-4155delinsAT | |
| ENST00000477119.2:c.654-4156_654-4155delinsAT | ENSP00000417649.2:n.654-4156_654-4155delinsAT | |
| ENST00000479656.6:c.*616-4156_*616-4155delinsAT | ENSP00000420071.1:n.*616-4156_*616-4155delinsAT | |
| ENST00000482687.6:c.*389-4156_*389-4155delinsAT | ENSP00000419289.2:n.*389-4156_*389-4155delinsAT | |
| ENST00000483148.6:c.*398-4156_*398-4155delinsAT | ENSP00000419723.1:n.*398-4156_*398-4155delinsAT | |
| ENST00000485479.6:c.*492-4156_*492-4155delinsAT | ENSP00000418144.1:n.*492-4156_*492-4155delinsAT | |
| ENST00000495360.6:c.*514-4156_*514-4155delinsAT | ENSP00000419623.2:n.*514-4156_*514-4155delinsAT | |
| ENST00000671774.1:n.763+1349_763+1350delinsAT | ||
| ENST00000671912.1:c.280-4156_280-4155delinsAT | ENSP00000500871.1:n.280-4156_280-4155delinsAT | |
| ENST00000672152.1:n.741-4156_741-4155delinsAT | ||
| ENST00000672244.1:c.382-4156_382-4155delinsAT | ENSP00000499875.1:n.382-4156_382-4155delinsAT | |
| ENST00000672281.1:n.968-4156_968-4155delinsAT | ||
| ENST00000672286.1:n.1032-4156_1032-4155delinsAT | ||
| ENST00000672438.1:c.507-4156_507-4155delinsAT | ENSP00000499997.1:n.507-4156_507-4155delinsAT | |
| ENST00000672476.1:n.963-4156_963-4155delinsAT | ||
| ENST00000672493.1:n.1310-4156_1310-4155delinsAT | ||
| ENST00000672519.1:c.*388+7254_*388+7255delinsAT | ENSP00000500320.1:n.*388+7254_*388+7255delinsAT | |
| ENST00000672535.1:c.*501-4156_*501-4155delinsAT | ENSP00000499872.1:n.*501-4156_*501-4155delinsAT | |
| ENST00000672615.1:n.848-4156_848-4155delinsAT | ||
| ENST00000672846.1:c.*501-4156_*501-4155delinsAT | ENSP00000500396.1:n.*501-4156_*501-4155delinsAT | |
| ENST00000673171.1:n.621-4156_621-4155delinsAT | ||
| ENST00000673211.1:n.853-4156_853-4155delinsAT | ||
| ENST00000673248.1:c.507-4156_507-4155delinsAT | ENSP00000500601.1:n.507-4156_507-4155delinsAT | |
| ENST00000673333.1:n.1049-4156_1049-4155delinsAT | ||
| ENST00000673360.1:c.*214-4156_*214-4155delinsAT | ENSP00000500360.1:n.*214-4156_*214-4155delinsAT | |
| ENST00000673416.1:c.507-4156_507-4155delinsAT | ENSP00000500738.1:n.507-4156_507-4155delinsAT | |
| ENST00000673485.1:n.968-4156_968-4155delinsAT | ||
| ENST00000673487.1:c.*501-4156_*501-4155delinsAT | ENSP00000500943.1:n.*501-4156_*501-4155delinsAT | |
| ENST00000673598.1:c.249-4156_249-4155delinsAT | ENSP00000499991.1:n.249-4156_249-4155delinsAT | |
| ENST00000309615.7:c.609-4156_609-4155delinsAT | ENSP00000311547.4:n.609-4156_609-4155delinsAT | |
| ENST00000379813.7:c.753-4156_753-4155delinsAT | ENSP00000369141.4:n.753-4156_753-4155delinsAT | |
| ENST00000379817.6:c.771-4156_771-4155delinsAT | ENSP00000369145.2:n.771-4156_771-4155delinsAT | |
| ENST00000379819.5:c.813-4156_813-4155delinsAT | ENSP00000369147.1:n.813-4156_813-4155delinsAT | |
| ENST00000379825.6:c.813-4156_813-4155delinsAT | ENSP00000369153.2:n.813-4156_813-4155delinsAT | |
| ENST00000397172.7:c.597-4156_597-4155delinsAT | ENSP00000380357.3:n.597-4156_597-4155delinsAT | |
| ENST00000436040.6:c.771-4156_771-4155delinsAT | ENSP00000400806.3:n.771-4156_771-4155delinsAT | |
| ENST00000460940.5:c.*389-4156_*389-4155delinsAT | ENSP00000418311.1:n.*389-4156_*389-4155delinsAT | |
| ENST00000463596.5:c.771-4156_771-4155delinsAT | ENSP00000419846.1:n.771-4156_771-4155delinsAT | |
| ENST00000465003.5:c.*398-4156_*398-4155delinsAT | ENSP00000419430.1:n.*398-4156_*398-4155delinsAT | |
| ENST00000467331.5:c.*616-4156_*616-4155delinsAT | ENSP00000418733.1:n.*616-4156_*616-4155delinsAT | |
| ENST00000468275.5:c.771-4156_771-4155delinsAT | ENSP00000420263.1:n.771-4156_771-4155delinsAT | |
| ENST00000472896.5:c.*274-4156_*274-4155delinsAT | ENSP00000417804.1:n.*274-4156_*274-4155delinsAT | |
| ENST00000474658.6:c.438-4156_438-4155delinsAT | ||
| ENST00000476858.5:c.651-4156_651-4155delinsAT | ENSP00000419042.1:n.651-4156_651-4155delinsAT | |
| ENST00000479656.5:c.*616-4156_*616-4155delinsAT | ENSP00000420071.1:n.*616-4156_*616-4155delinsAT | |
| ENST00000482687.5:c.544-4156_544-4155delinsAT | ENSP00000419289.1:n.544-4156_544-4155delinsAT | |
| ENST00000483148.5:c.*171-4156_*171-4155delinsAT | ENSP00000419723.1:n.*171-4156_*171-4155delinsAT | |
| ENST00000485479.5:c.*501-4156_*501-4155delinsAT | ENSP00000418144.1:n.*501-4156_*501-4155delinsAT | |
| ENST00000494649.5:c.*616-4156_*616-4155delinsAT | ENSP00000417634.1:n.*616-4156_*616-4155delinsAT | |
| ENST00000495360.5:c.*501-4156_*501-4155delinsAT | ENSP00000419623.1:n.*501-4156_*501-4155delinsAT | |
| NM_001195248.1:c.813-4156_813-4155delinsAT | NP_001182177.1:n.813-4156_813-4155delinsAT | |
| NM_001195249.1:c.771-4156_771-4155delinsAT | NP_001182178.1:n.771-4156_771-4155delinsAT | |
| NM_001195250.1:c.651-4156_651-4155delinsAT | NP_001182179.1:n.651-4156_651-4155delinsAT | |
| NM_001195251.1:c.771-4156_771-4155delinsAT | NP_001182180.1:n.771-4156_771-4155delinsAT | |
| NM_001195252.1:c.597-4156_597-4155delinsAT | NP_001182181.1:n.597-4156_597-4155delinsAT | |
| NM_001195254.1:c.609-4156_609-4155delinsAT | NP_001182183.1:n.609-4156_609-4155delinsAT | |
| NM_175069.2:c.813-4156_813-4155delinsAT | NP_778239.1:n.813-4156_813-4155delinsAT | |
| NM_175073.2:c.771-4156_771-4155delinsAT | NP_778243.1:n.771-4156_771-4155delinsAT | |
| NR_036576.1:n.845-4156_845-4155delinsAT | ||
| NR_036577.1:n.735-4156_735-4155delinsAT | ||
| NR_036578.1:n.867-4156_867-4155delinsAT | ||
| NR_036579.1:n.1014-4156_1014-4155delinsAT | ||
| XM_006716791.2:c.771-4156_771-4155delinsAT | XP_006716854.1:n.771-4156_771-4155delinsAT | |
| XM_006716792.2:c.507-4156_507-4155delinsAT | XP_006716855.1:n.507-4156_507-4155delinsAT | |
| XM_011517936.1:c.507-4156_507-4155delinsAT | XP_011516238.1:n.507-4156_507-4155delinsAT | |
| XM_011517937.1:c.507-4156_507-4155delinsAT | XP_011516239.1:n.507-4156_507-4155delinsAT | |
| XM_011517938.1:c.507-4156_507-4155delinsAT | XP_011516240.1:n.507-4156_507-4155delinsAT | |
| XM_011517939.1:c.507-4156_507-4155delinsAT | XP_011516241.1:n.507-4156_507-4155delinsAT | |
| XR_428423.2:n.623-4156_623-4155delinsAT | ||
| XR_929276.1:n.1221+1349_1221+1350delinsAT | ||
| XR_929277.1:n.1244+1349_1244+1350delinsAT | ||
| XR_929279.1:n.623-4156_623-4155delinsAT | ||
| XM_006716791.4:c.771-4156_771-4155delinsAT | XP_006716854.1:n.771-4156_771-4155delinsAT | |
| XM_006716792.3:c.507-4156_507-4155delinsAT | XP_006716855.1:n.507-4156_507-4155delinsAT | |
| XM_011517938.2:c.507-4156_507-4155delinsAT | XP_011516240.1:n.507-4156_507-4155delinsAT | |
| XM_011517939.3:c.507-4156_507-4155delinsAT | XP_011516241.1:n.507-4156_507-4155delinsAT | |
| XM_017014831.1:c.812+5914_812+5915delinsAT | XP_016870320.1:n.812+5914_812+5915delinsAT | |
| XM_017014832.1:c.812+5914_812+5915delinsAT | XP_016870321.1:n.812+5914_812+5915delinsAT | |
| XM_017014833.2:c.812+5914_812+5915delinsAT | XP_016870322.1:n.812+5914_812+5915delinsAT | |
| XM_017014836.2:c.812+5914_812+5915delinsAT | XP_016870325.1:n.812+5914_812+5915delinsAT | |
| XM_017014837.2:c.609-4156_609-4155delinsAT | XP_016870326.1:n.609-4156_609-4155delinsAT | |
| XM_017014838.1:c.507-4156_507-4155delinsAT | XP_016870327.1:n.507-4156_507-4155delinsAT | |
| XM_024447575.1:c.771-4156_771-4155delinsAT | XP_024303343.1:n.771-4156_771-4155delinsAT | |
| XM_024447576.1:c.771-4156_771-4155delinsAT | XP_024303344.1:n.771-4156_771-4155delinsAT | |
| XM_024447577.1:c.771-4156_771-4155delinsAT | XP_024303345.1:n.771-4156_771-4155delinsAT | |
| XM_024447578.1:c.812+5914_812+5915delinsAT | XP_024303346.1:n.812+5914_812+5915delinsAT | |
| XM_024447579.1:c.771-4156_771-4155delinsAT | XP_024303347.1:n.771-4156_771-4155delinsAT | |
| XM_024447580.1:c.609-4156_609-4155delinsAT | XP_024303348.1:n.609-4156_609-4155delinsAT | |
| XM_024447581.1:c.507-4156_507-4155delinsAT | XP_024303349.1:n.507-4156_507-4155delinsAT | |
| XM_024447582.1:c.507-4156_507-4155delinsAT | XP_024303350.1:n.507-4156_507-4155delinsAT | |
| XR_001746325.2:n.1244+1349_1244+1350delinsAT | ||
| XR_001746326.2:n.1229+1349_1229+1350delinsAT | ||
| XR_428423.3:n.623-4156_623-4155delinsAT | ||
| XR_929276.3:n.1221+1349_1221+1350delinsAT | ||
| XR_929277.3:n.1244+1349_1244+1350delinsAT | ||
| NM_001195248.2:c.771-4156_771-4155delinsAT MANE Select | NP_001182177.2:n.771-4156_771-4155delinsAT | |
| NM_001195250.2:c.609-4156_609-4155delinsAT | NP_001182179.2:n.609-4156_609-4155delinsAT | |
| NM_001195252.2:c.555-4156_555-4155delinsAT | NP_001182181.2:n.555-4156_555-4155delinsAT | |
| NM_001368995.1:c.771-4156_771-4155delinsAT | NP_001355924.1:n.771-4156_771-4155delinsAT | |
| NM_001368996.1:c.771-4156_771-4155delinsAT | NP_001355925.1:n.771-4156_771-4155delinsAT | |
| NM_001368997.1:c.771-4156_771-4155delinsAT | NP_001355926.1:n.771-4156_771-4155delinsAT | |
| NM_001368998.1:c.771-4156_771-4155delinsAT | NP_001355927.1:n.771-4156_771-4155delinsAT | |
| NM_001368999.1:c.771-4156_771-4155delinsAT | NP_001355928.1:n.771-4156_771-4155delinsAT | |
| NM_001369000.1:c.609-4156_609-4155delinsAT | NP_001355929.1:n.609-4156_609-4155delinsAT | |
| NM_001369001.1:c.609-4156_609-4155delinsAT | NP_001355930.1:n.609-4156_609-4155delinsAT | |
| NM_001369002.1:c.507-4156_507-4155delinsAT | NP_001355931.1:n.507-4156_507-4155delinsAT | |
| NM_001369003.1:c.507-4156_507-4155delinsAT | NP_001355932.1:n.507-4156_507-4155delinsAT | |
| NM_001369004.1:c.507-4156_507-4155delinsAT | NP_001355933.1:n.507-4156_507-4155delinsAT | |
| NM_001369005.1:c.507-4156_507-4155delinsAT | NP_001355934.1:n.507-4156_507-4155delinsAT | |
| NM_001369006.1:c.507-4156_507-4155delinsAT | NP_001355935.1:n.507-4156_507-4155delinsAT | |
| NM_001370669.1:c.507-4156_507-4155delinsAT | NP_001357598.1:n.507-4156_507-4155delinsAT | |
| NM_001370670.1:c.507-4156_507-4155delinsAT | NP_001357599.1:n.507-4156_507-4155delinsAT | |
| NM_001370673.1:c.507-4156_507-4155delinsAT | NP_001357602.1:n.507-4156_507-4155delinsAT | |
| NM_175069.3:c.771-4156_771-4155delinsAT | NP_778239.2:n.771-4156_771-4155delinsAT | |
| NR_160920.1:n.610-4156_610-4155delinsAT | ||
| NR_160921.1:n.741-4156_741-4155delinsAT | ||
| NR_160922.1:n.972-4156_972-4155delinsAT | ||
| NR_160923.1:n.776-4156_776-4155delinsAT | ||
| NR_160924.1:n.781-4156_781-4155delinsAT | ||
| NR_160925.1:n.977-4156_977-4155delinsAT | ||
| NR_160926.1:n.767-4156_767-4155delinsAT | ||
| NR_160927.1:n.860-4156_860-4155delinsAT | ||
| NR_160928.1:n.750-4156_750-4155delinsAT | ||
| NR_160929.1:n.664-4156_664-4155delinsAT | ||
| NR_160930.1:n.717-4156_717-4155delinsAT | ||
| NR_160931.1:n.956-4156_956-4155delinsAT | ||
| NM_001195249.2:c.771-4156_771-4155delinsAT | NP_001182178.1:n.771-4156_771-4155delinsAT | |
| NM_001195251.2:c.771-4156_771-4155delinsAT | NP_001182180.1:n.771-4156_771-4155delinsAT | |
| NM_001195254.2:c.609-4156_609-4155delinsAT | NP_001182183.1:n.609-4156_609-4155delinsAT | |
| NM_175073.3:c.771-4156_771-4155delinsAT | NP_778243.1:n.771-4156_771-4155delinsAT | |
| NR_036577.2:n.722-4156_722-4155delinsAT |