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.32978730_32978731delinsTC , CM000671.2:g.32978730_32978731delinsTC | GRCh38 |
| NC_000009.11:g.32978728_32978729delinsTC , CM000671.1:g.32978728_32978729delinsTC | GRCh37 |
| NC_000009.10:g.32968728_32968729delinsTC | NCBI36 |
| NG_012821.1:g.27898_27899delinsGA | |
| NG_012821.2:g.51401_51402delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309615.8:c.609-4170_609-4169delinsGA | ENSP00000311547.4:n.609-4170_609-4169delinsGA | |
| ENST00000379817.7:c.771-4170_771-4169delinsGA MANE Select | ENSP00000369145.2:n.771-4170_771-4169delinsGA | |
| ENST00000379819.6:c.771-4170_771-4169delinsGA | ENSP00000369147.2:n.771-4170_771-4169delinsGA | |
| ENST00000379825.7:c.771-4170_771-4169delinsGA | ENSP00000369153.3:n.771-4170_771-4169delinsGA | |
| ENST00000397172.8:c.555-4170_555-4169delinsGA | ENSP00000380357.4:n.555-4170_555-4169delinsGA | |
| ENST00000436040.7:c.609-4170_609-4169delinsGA | ENSP00000400806.4:n.609-4170_609-4169delinsGA | |
| ENST00000460940.6:c.*389-4170_*389-4169delinsGA | ENSP00000418311.1:n.*389-4170_*389-4169delinsGA | |
| ENST00000463596.6:c.771-4170_771-4169delinsGA | ENSP00000419846.1:n.771-4170_771-4169delinsGA | |
| ENST00000465003.6:c.*501-4170_*501-4169delinsGA | ENSP00000419430.2:n.*501-4170_*501-4169delinsGA | |
| ENST00000467331.6:c.*616-4170_*616-4169delinsGA | ENSP00000418733.1:n.*616-4170_*616-4169delinsGA | |
| ENST00000468275.6:c.771-4170_771-4169delinsGA | ENSP00000420263.2:n.771-4170_771-4169delinsGA | |
| ENST00000472896.6:c.*565-4170_*565-4169delinsGA | ENSP00000417804.2:n.*565-4170_*565-4169delinsGA | |
| ENST00000474658.7:c.*214-4170_*214-4169delinsGA | ENSP00000417750.3:n.*214-4170_*214-4169delinsGA | |
| ENST00000476858.6:c.609-4170_609-4169delinsGA | ENSP00000419042.2:n.609-4170_609-4169delinsGA | |
| ENST00000477119.2:c.654-4170_654-4169delinsGA | ENSP00000417649.2:n.654-4170_654-4169delinsGA | |
| ENST00000479656.6:c.*616-4170_*616-4169delinsGA | ENSP00000420071.1:n.*616-4170_*616-4169delinsGA | |
| ENST00000482687.6:c.*389-4170_*389-4169delinsGA | ENSP00000419289.2:n.*389-4170_*389-4169delinsGA | |
| ENST00000483148.6:c.*398-4170_*398-4169delinsGA | ENSP00000419723.1:n.*398-4170_*398-4169delinsGA | |
| ENST00000485479.6:c.*492-4170_*492-4169delinsGA | ENSP00000418144.1:n.*492-4170_*492-4169delinsGA | |
| ENST00000495360.6:c.*514-4170_*514-4169delinsGA | ENSP00000419623.2:n.*514-4170_*514-4169delinsGA | |
| ENST00000671774.1:n.763+1335_763+1336delinsGA | ||
| ENST00000671912.1:c.280-4170_280-4169delinsGA | ENSP00000500871.1:n.280-4170_280-4169delinsGA | |
| ENST00000672152.1:n.741-4170_741-4169delinsGA | ||
| ENST00000672244.1:c.382-4170_382-4169delinsGA | ENSP00000499875.1:n.382-4170_382-4169delinsGA | |
| ENST00000672281.1:n.968-4170_968-4169delinsGA | ||
| ENST00000672286.1:n.1032-4170_1032-4169delinsGA | ||
| ENST00000672438.1:c.507-4170_507-4169delinsGA | ENSP00000499997.1:n.507-4170_507-4169delinsGA | |
| ENST00000672476.1:n.963-4170_963-4169delinsGA | ||
| ENST00000672493.1:n.1310-4170_1310-4169delinsGA | ||
| ENST00000672519.1:c.*388+7240_*388+7241delinsGA | ENSP00000500320.1:n.*388+7240_*388+7241delinsGA | |
| ENST00000672535.1:c.*501-4170_*501-4169delinsGA | ENSP00000499872.1:n.*501-4170_*501-4169delinsGA | |
| ENST00000672615.1:n.848-4170_848-4169delinsGA | ||
| ENST00000672846.1:c.*501-4170_*501-4169delinsGA | ENSP00000500396.1:n.*501-4170_*501-4169delinsGA | |
| ENST00000673171.1:n.621-4170_621-4169delinsGA | ||
| ENST00000673211.1:n.853-4170_853-4169delinsGA | ||
| ENST00000673248.1:c.507-4170_507-4169delinsGA | ENSP00000500601.1:n.507-4170_507-4169delinsGA | |
| ENST00000673333.1:n.1049-4170_1049-4169delinsGA | ||
| ENST00000673360.1:c.*214-4170_*214-4169delinsGA | ENSP00000500360.1:n.*214-4170_*214-4169delinsGA | |
| ENST00000673416.1:c.507-4170_507-4169delinsGA | ENSP00000500738.1:n.507-4170_507-4169delinsGA | |
| ENST00000673485.1:n.968-4170_968-4169delinsGA | ||
| ENST00000673487.1:c.*501-4170_*501-4169delinsGA | ENSP00000500943.1:n.*501-4170_*501-4169delinsGA | |
| ENST00000673598.1:c.249-4170_249-4169delinsGA | ENSP00000499991.1:n.249-4170_249-4169delinsGA | |
| ENST00000309615.7:c.609-4170_609-4169delinsGA | ENSP00000311547.4:n.609-4170_609-4169delinsGA | |
| ENST00000379813.7:c.753-4170_753-4169delinsGA | ENSP00000369141.4:n.753-4170_753-4169delinsGA | |
| ENST00000379817.6:c.771-4170_771-4169delinsGA | ENSP00000369145.2:n.771-4170_771-4169delinsGA | |
| ENST00000379819.5:c.813-4170_813-4169delinsGA | ENSP00000369147.1:n.813-4170_813-4169delinsGA | |
| ENST00000379825.6:c.813-4170_813-4169delinsGA | ENSP00000369153.2:n.813-4170_813-4169delinsGA | |
| ENST00000397172.7:c.597-4170_597-4169delinsGA | ENSP00000380357.3:n.597-4170_597-4169delinsGA | |
| ENST00000436040.6:c.771-4170_771-4169delinsGA | ENSP00000400806.3:n.771-4170_771-4169delinsGA | |
| ENST00000460940.5:c.*389-4170_*389-4169delinsGA | ENSP00000418311.1:n.*389-4170_*389-4169delinsGA | |
| ENST00000463596.5:c.771-4170_771-4169delinsGA | ENSP00000419846.1:n.771-4170_771-4169delinsGA | |
| ENST00000465003.5:c.*398-4170_*398-4169delinsGA | ENSP00000419430.1:n.*398-4170_*398-4169delinsGA | |
| ENST00000467331.5:c.*616-4170_*616-4169delinsGA | ENSP00000418733.1:n.*616-4170_*616-4169delinsGA | |
| ENST00000468275.5:c.771-4170_771-4169delinsGA | ENSP00000420263.1:n.771-4170_771-4169delinsGA | |
| ENST00000472896.5:c.*274-4170_*274-4169delinsGA | ENSP00000417804.1:n.*274-4170_*274-4169delinsGA | |
| ENST00000474658.6:c.438-4170_438-4169delinsGA | ||
| ENST00000476858.5:c.651-4170_651-4169delinsGA | ENSP00000419042.1:n.651-4170_651-4169delinsGA | |
| ENST00000479656.5:c.*616-4170_*616-4169delinsGA | ENSP00000420071.1:n.*616-4170_*616-4169delinsGA | |
| ENST00000482687.5:c.544-4170_544-4169delinsGA | ENSP00000419289.1:n.544-4170_544-4169delinsGA | |
| ENST00000483148.5:c.*171-4170_*171-4169delinsGA | ENSP00000419723.1:n.*171-4170_*171-4169delinsGA | |
| ENST00000485479.5:c.*501-4170_*501-4169delinsGA | ENSP00000418144.1:n.*501-4170_*501-4169delinsGA | |
| ENST00000494649.5:c.*616-4170_*616-4169delinsGA | ENSP00000417634.1:n.*616-4170_*616-4169delinsGA | |
| ENST00000495360.5:c.*501-4170_*501-4169delinsGA | ENSP00000419623.1:n.*501-4170_*501-4169delinsGA | |
| NM_001195248.1:c.813-4170_813-4169delinsGA | NP_001182177.1:n.813-4170_813-4169delinsGA | |
| NM_001195249.1:c.771-4170_771-4169delinsGA | NP_001182178.1:n.771-4170_771-4169delinsGA | |
| NM_001195250.1:c.651-4170_651-4169delinsGA | NP_001182179.1:n.651-4170_651-4169delinsGA | |
| NM_001195251.1:c.771-4170_771-4169delinsGA | NP_001182180.1:n.771-4170_771-4169delinsGA | |
| NM_001195252.1:c.597-4170_597-4169delinsGA | NP_001182181.1:n.597-4170_597-4169delinsGA | |
| NM_001195254.1:c.609-4170_609-4169delinsGA | NP_001182183.1:n.609-4170_609-4169delinsGA | |
| NM_175069.2:c.813-4170_813-4169delinsGA | NP_778239.1:n.813-4170_813-4169delinsGA | |
| NM_175073.2:c.771-4170_771-4169delinsGA | NP_778243.1:n.771-4170_771-4169delinsGA | |
| NR_036576.1:n.845-4170_845-4169delinsGA | ||
| NR_036577.1:n.735-4170_735-4169delinsGA | ||
| NR_036578.1:n.867-4170_867-4169delinsGA | ||
| NR_036579.1:n.1014-4170_1014-4169delinsGA | ||
| XM_006716791.2:c.771-4170_771-4169delinsGA | XP_006716854.1:n.771-4170_771-4169delinsGA | |
| XM_006716792.2:c.507-4170_507-4169delinsGA | XP_006716855.1:n.507-4170_507-4169delinsGA | |
| XM_011517936.1:c.507-4170_507-4169delinsGA | XP_011516238.1:n.507-4170_507-4169delinsGA | |
| XM_011517937.1:c.507-4170_507-4169delinsGA | XP_011516239.1:n.507-4170_507-4169delinsGA | |
| XM_011517938.1:c.507-4170_507-4169delinsGA | XP_011516240.1:n.507-4170_507-4169delinsGA | |
| XM_011517939.1:c.507-4170_507-4169delinsGA | XP_011516241.1:n.507-4170_507-4169delinsGA | |
| XR_428423.2:n.623-4170_623-4169delinsGA | ||
| XR_929276.1:n.1221+1335_1221+1336delinsGA | ||
| XR_929277.1:n.1244+1335_1244+1336delinsGA | ||
| XR_929279.1:n.623-4170_623-4169delinsGA | ||
| XM_006716791.4:c.771-4170_771-4169delinsGA | XP_006716854.1:n.771-4170_771-4169delinsGA | |
| XM_006716792.3:c.507-4170_507-4169delinsGA | XP_006716855.1:n.507-4170_507-4169delinsGA | |
| XM_011517938.2:c.507-4170_507-4169delinsGA | XP_011516240.1:n.507-4170_507-4169delinsGA | |
| XM_011517939.3:c.507-4170_507-4169delinsGA | XP_011516241.1:n.507-4170_507-4169delinsGA | |
| XM_017014831.1:c.812+5900_812+5901delinsGA | XP_016870320.1:n.812+5900_812+5901delinsGA | |
| XM_017014832.1:c.812+5900_812+5901delinsGA | XP_016870321.1:n.812+5900_812+5901delinsGA | |
| XM_017014833.2:c.812+5900_812+5901delinsGA | XP_016870322.1:n.812+5900_812+5901delinsGA | |
| XM_017014836.2:c.812+5900_812+5901delinsGA | XP_016870325.1:n.812+5900_812+5901delinsGA | |
| XM_017014837.2:c.609-4170_609-4169delinsGA | XP_016870326.1:n.609-4170_609-4169delinsGA | |
| XM_017014838.1:c.507-4170_507-4169delinsGA | XP_016870327.1:n.507-4170_507-4169delinsGA | |
| XM_024447575.1:c.771-4170_771-4169delinsGA | XP_024303343.1:n.771-4170_771-4169delinsGA | |
| XM_024447576.1:c.771-4170_771-4169delinsGA | XP_024303344.1:n.771-4170_771-4169delinsGA | |
| XM_024447577.1:c.771-4170_771-4169delinsGA | XP_024303345.1:n.771-4170_771-4169delinsGA | |
| XM_024447578.1:c.812+5900_812+5901delinsGA | XP_024303346.1:n.812+5900_812+5901delinsGA | |
| XM_024447579.1:c.771-4170_771-4169delinsGA | XP_024303347.1:n.771-4170_771-4169delinsGA | |
| XM_024447580.1:c.609-4170_609-4169delinsGA | XP_024303348.1:n.609-4170_609-4169delinsGA | |
| XM_024447581.1:c.507-4170_507-4169delinsGA | XP_024303349.1:n.507-4170_507-4169delinsGA | |
| XM_024447582.1:c.507-4170_507-4169delinsGA | XP_024303350.1:n.507-4170_507-4169delinsGA | |
| XR_001746325.2:n.1244+1335_1244+1336delinsGA | ||
| XR_001746326.2:n.1229+1335_1229+1336delinsGA | ||
| XR_428423.3:n.623-4170_623-4169delinsGA | ||
| XR_929276.3:n.1221+1335_1221+1336delinsGA | ||
| XR_929277.3:n.1244+1335_1244+1336delinsGA | ||
| NM_001195248.2:c.771-4170_771-4169delinsGA MANE Select | NP_001182177.2:n.771-4170_771-4169delinsGA | |
| NM_001195250.2:c.609-4170_609-4169delinsGA | NP_001182179.2:n.609-4170_609-4169delinsGA | |
| NM_001195252.2:c.555-4170_555-4169delinsGA | NP_001182181.2:n.555-4170_555-4169delinsGA | |
| NM_001368995.1:c.771-4170_771-4169delinsGA | NP_001355924.1:n.771-4170_771-4169delinsGA | |
| NM_001368996.1:c.771-4170_771-4169delinsGA | NP_001355925.1:n.771-4170_771-4169delinsGA | |
| NM_001368997.1:c.771-4170_771-4169delinsGA | NP_001355926.1:n.771-4170_771-4169delinsGA | |
| NM_001368998.1:c.771-4170_771-4169delinsGA | NP_001355927.1:n.771-4170_771-4169delinsGA | |
| NM_001368999.1:c.771-4170_771-4169delinsGA | NP_001355928.1:n.771-4170_771-4169delinsGA | |
| NM_001369000.1:c.609-4170_609-4169delinsGA | NP_001355929.1:n.609-4170_609-4169delinsGA | |
| NM_001369001.1:c.609-4170_609-4169delinsGA | NP_001355930.1:n.609-4170_609-4169delinsGA | |
| NM_001369002.1:c.507-4170_507-4169delinsGA | NP_001355931.1:n.507-4170_507-4169delinsGA | |
| NM_001369003.1:c.507-4170_507-4169delinsGA | NP_001355932.1:n.507-4170_507-4169delinsGA | |
| NM_001369004.1:c.507-4170_507-4169delinsGA | NP_001355933.1:n.507-4170_507-4169delinsGA | |
| NM_001369005.1:c.507-4170_507-4169delinsGA | NP_001355934.1:n.507-4170_507-4169delinsGA | |
| NM_001369006.1:c.507-4170_507-4169delinsGA | NP_001355935.1:n.507-4170_507-4169delinsGA | |
| NM_001370669.1:c.507-4170_507-4169delinsGA | NP_001357598.1:n.507-4170_507-4169delinsGA | |
| NM_001370670.1:c.507-4170_507-4169delinsGA | NP_001357599.1:n.507-4170_507-4169delinsGA | |
| NM_001370673.1:c.507-4170_507-4169delinsGA | NP_001357602.1:n.507-4170_507-4169delinsGA | |
| NM_175069.3:c.771-4170_771-4169delinsGA | NP_778239.2:n.771-4170_771-4169delinsGA | |
| NR_160920.1:n.610-4170_610-4169delinsGA | ||
| NR_160921.1:n.741-4170_741-4169delinsGA | ||
| NR_160922.1:n.972-4170_972-4169delinsGA | ||
| NR_160923.1:n.776-4170_776-4169delinsGA | ||
| NR_160924.1:n.781-4170_781-4169delinsGA | ||
| NR_160925.1:n.977-4170_977-4169delinsGA | ||
| NR_160926.1:n.767-4170_767-4169delinsGA | ||
| NR_160927.1:n.860-4170_860-4169delinsGA | ||
| NR_160928.1:n.750-4170_750-4169delinsGA | ||
| NR_160929.1:n.664-4170_664-4169delinsGA | ||
| NR_160930.1:n.717-4170_717-4169delinsGA | ||
| NR_160931.1:n.956-4170_956-4169delinsGA | ||
| NM_001195249.2:c.771-4170_771-4169delinsGA | NP_001182178.1:n.771-4170_771-4169delinsGA | |
| NM_001195251.2:c.771-4170_771-4169delinsGA | NP_001182180.1:n.771-4170_771-4169delinsGA | |
| NM_001195254.2:c.609-4170_609-4169delinsGA | NP_001182183.1:n.609-4170_609-4169delinsGA | |
| NM_175073.3:c.771-4170_771-4169delinsGA | NP_778243.1:n.771-4170_771-4169delinsGA | |
| NR_036577.2:n.722-4170_722-4169delinsGA |