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_000003.12:g.12590713_12590714insAATT , CM000665.2:g.12590713_12590714insAATT | GRCh38 |
| NC_000003.11:g.12632212_12632213insAATT , CM000665.1:g.12632212_12632213insAATT | GRCh37 |
| NC_000003.10:g.12607212_12607213insAATT | NCBI36 |
| NG_007467.1:g.78466_78467insAATT , LRG_413:g.78466_78467insAATT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1035+84_*1035+85insAATT | ENSP00000401088.1:n.*1035+84_*1035+85insA... | |
| ENST00000432427.3:c.687+84_687+85insAATT | ||
| ENST00000460610.2:n.248_249insAATT | ||
| ENST00000465826.6:n.961+84_961+85insAATT | ||
| ENST00000475353.2:n.1292+84_1292+85insAATT | ||
| ENST00000494557.2:n.1265_1266insAATT | ||
| ENST00000684903.1:c.*1047+84_*1047+85insAATT | ENSP00000508612.1:n.*1047+84_*1047+85insA... | |
| ENST00000685348.1:c.*1047+84_*1047+85insAATT | ENSP00000510285.1:n.*1047+84_*1047+85insA... | |
| ENST00000685437.1:c.1271+84_1271+85insAATT | ENSP00000508794.1:n.1271+84_1271+85insAAT... | |
| ENST00000685653.1:c.1370+84_1370+85insAATT | ENSP00000509968.1:n.1370+84_1370+85insAAT... | |
| ENST00000685738.1:c.*334+84_*334+85insAATT | ENSP00000510156.1:n.*334+84_*334+85insAAT... | |
| ENST00000686409.1:n.2421+84_2421+85insAATT | ||
| ENST00000686455.1:n.1733+84_1733+85insAATT | ||
| ENST00000686762.1:c.1370+84_1370+85insAATT | ENSP00000509767.1:n.1370+84_1370+85insAAT... | |
| ENST00000687257.1:n.1606+84_1606+85insAATT | ||
| ENST00000687326.1:c.*304+84_*304+85insAATT | ENSP00000509665.1:n.*304+84_*304+85insAAT... | |
| ENST00000687505.1:n.1488+84_1488+85insAATT | ||
| ENST00000687923.1:c.1259+84_1259+85insAATT | ENSP00000510255.1:n.1259+84_1259+85insAAT... | |
| ENST00000687940.1:n.1831_1832insAATT | ||
| ENST00000688269.1:n.1966+84_1966+85insAATT | ||
| ENST00000688326.1:c.803+84_803+85insAATT | ||
| ENST00000688444.1:n.1696+84_1696+85insAATT | ||
| ENST00000688543.1:c.1271+84_1271+85insAATT | ENSP00000509612.1:n.1271+84_1271+85insAAT... | |
| ENST00000688625.1:c.*948+84_*948+85insAATT | ENSP00000509522.1:n.*948+84_*948+85insAAT... | |
| ENST00000688803.1:n.1601+84_1601+85insAATT | ||
| ENST00000688914.1:n.356+84_356+85insAATT | ||
| ENST00000689097.1:c.*1047+84_*1047+85insAATT | ENSP00000509756.1:n.*1047+84_*1047+85insA... | |
| ENST00000689389.1:c.1193+994_1193+995insAATT | ENSP00000510213.1:n.1193+994_1193+995insA... | |
| ENST00000689418.1:c.*1047+84_*1047+85insAATT | ENSP00000509467.1:n.*1047+84_*1047+85insA... | |
| ENST00000689481.1:c.*1131_*1132insAATT | ENSP00000510248.1:n.*1131_*1132insAATT | |
| ENST00000689540.1:n.1520+84_1520+85insAATT | ||
| ENST00000689876.1:c.1370+84_1370+85insAATT | ENSP00000508535.1:n.1370+84_1370+85insAAT... | |
| ENST00000689914.1:c.*304+84_*304+85insAATT | ENSP00000509847.1:n.*304+84_*304+85insAAT... | |
| ENST00000690397.1:c.1259+84_1259+85insAATT | ENSP00000508730.1:n.1259+84_1259+85insAAT... | |
| ENST00000690460.1:c.1358+84_1358+85insAATT | ENSP00000509106.1:n.1358+84_1358+85insAAT... | |
| ENST00000690585.1:c.262+84_262+85insAATT | ||
| ENST00000690625.1:n.2406+84_2406+85insAATT | ||
| ENST00000691396.1:c.*1222+84_*1222+85insAATT | ENSP00000510712.1:n.*1222+84_*1222+85insA... | |
| ENST00000691724.1:c.*327+84_*327+85insAATT | ENSP00000509255.1:n.*327+84_*327+85insAAT... | |
| ENST00000691779.1:c.*948+84_*948+85insAATT | ENSP00000508592.1:n.*948+84_*948+85insAAT... | |
| ENST00000691888.1:c.262+84_262+85insAATT | ||
| ENST00000691899.1:c.1370+84_1370+85insAATT | ENSP00000508763.1:n.1370+84_1370+85insAAT... | |
| ENST00000692069.1:n.1936+84_1936+85insAATT | ||
| ENST00000692093.1:c.1271+84_1271+85insAATT | ENSP00000509669.1:n.1271+84_1271+85insAAT... | |
| ENST00000692311.1:n.2194+84_2194+85insAATT | ||
| ENST00000692558.1:n.1735+84_1735+85insAATT | ||
| ENST00000692773.1:c.*1107+84_*1107+85insAATT | ENSP00000509055.1:n.*1107+84_*1107+85insA... | |
| ENST00000692830.1:c.*1115+84_*1115+85insAATT | ENSP00000509461.1:n.*1115+84_*1115+85insA... | |
| ENST00000693312.1:c.1145+84_1145+85insAATT | ENSP00000508686.1:n.1145+84_1145+85insAAT... | |
| ENST00000693664.1:c.1370+84_1370+85insAATT | ENSP00000509614.1:n.1370+84_1370+85insAAT... | |
| ENST00000693705.1:c.*1047+84_*1047+85insAATT | ENSP00000510697.1:n.*1047+84_*1047+85insA... | |
| ENST00000251849.9:c.1370+84_1370+85insAATT MANE Select | ENSP00000251849.4:n.1370+84_1370+85insAAT... | |
| ENST00000442415.7:c.1430+84_1430+85insAATT | ENSP00000401888.2:n.1430+84_1430+85insAAT... | |
| ENST00000251849.8:c.1370+84_1370+85insAATT | ENSP00000251849.4:n.1370+84_1370+85insAAT... | |
| ENST00000423275.5:c.*1047+84_*1047+85insAATT | ENSP00000401088.1:n.*1047+84_*1047+85insA... | |
| ENST00000432427.2:c.1007+84_1007+85insAATT | ENSP00000398591.2:n.1007+84_1007+85insAAT... | |
| ENST00000442415.6:c.1430+84_1430+85insAATT | ENSP00000401888.2:n.1430+84_1430+85insAAT... | |
| ENST00000460610.1:n.411_412insAATT | ||
| ENST00000465826.5:n.727+84_727+85insAATT | ||
| ENST00000475353.1:n.538+84_538+85insAATT | ||
| ENST00000494557.1:n.470_471insAATT | ||
| NM_002880.3:c.1370+84_1370+85insAATT , LRG_413t1:c.1370+84_1370+85insAATT | NP_002871.1:n.1370+84_1370+85insAATT | |
| XM_005265355.1:c.1370+84_1370+85insAATT | XP_005265412.1:n.1370+84_1370+85insAATT | |
| XM_005265357.1:c.1271+84_1271+85insAATT | XP_005265414.1:n.1271+84_1271+85insAATT | |
| XM_005265358.3:c.1127+84_1127+85insAATT | XP_005265415.1:n.1127+84_1127+85insAATT | |
| XM_005265359.3:c.1028+84_1028+85insAATT | XP_005265416.1:n.1028+84_1028+85insAATT | |
| XM_005265360.1:c.1370+84_1370+85insAATT | XP_005265417.1:n.1370+84_1370+85insAATT | |
| XM_011533974.1:c.1370+84_1370+85insAATT | XP_011532276.1:n.1370+84_1370+85insAATT | |
| XM_011533975.1:c.1127+84_1127+85insAATT | XP_011532277.1:n.1127+84_1127+85insAATT | |
| NM_001354689.1:c.1430+84_1430+85insAATT | NP_001341618.1:n.1430+84_1430+85insAATT | |
| NM_001354690.1:c.1370+84_1370+85insAATT | NP_001341619.1:n.1370+84_1370+85insAATT | |
| NM_001354691.1:c.1127+84_1127+85insAATT | NP_001341620.1:n.1127+84_1127+85insAATT | |
| NM_001354692.1:c.1127+84_1127+85insAATT | NP_001341621.1:n.1127+84_1127+85insAATT | |
| NM_001354693.1:c.1271+84_1271+85insAATT | NP_001341622.1:n.1271+84_1271+85insAATT | |
| NM_001354694.1:c.1187+84_1187+85insAATT | NP_001341623.1:n.1187+84_1187+85insAATT | |
| NM_001354695.1:c.1028+84_1028+85insAATT | NP_001341624.1:n.1028+84_1028+85insAATT | |
| NR_148940.1:n.1898+84_1898+85insAATT | ||
| NR_148941.1:n.1844+84_1844+85insAATT | ||
| NR_148942.1:n.1783+84_1783+85insAATT | ||
| XM_011533974.3:c.1370+84_1370+85insAATT | XP_011532276.1:n.1370+84_1370+85insAATT | |
| XM_017006966.1:c.1271+84_1271+85insAATT | XP_016862455.1:n.1271+84_1271+85insAATT | |
| NM_001354689.3:c.1430+84_1430+85insAATT | NP_001341618.1:n.1430+84_1430+85insAATT | |
| NM_001354690.2:c.1370+84_1370+85insAATT | NP_001341619.1:n.1370+84_1370+85insAATT | |
| NM_001354691.2:c.1127+84_1127+85insAATT | NP_001341620.1:n.1127+84_1127+85insAATT | |
| NM_001354692.2:c.1127+84_1127+85insAATT | NP_001341621.1:n.1127+84_1127+85insAATT | |
| NM_001354693.2:c.1271+84_1271+85insAATT | NP_001341622.1:n.1271+84_1271+85insAATT | |
| NM_001354694.2:c.1187+84_1187+85insAATT | NP_001341623.1:n.1187+84_1187+85insAATT | |
| NM_001354695.2:c.1028+84_1028+85insAATT | NP_001341624.1:n.1028+84_1028+85insAATT | |
| NR_148940.2:n.1814+84_1814+85insAATT | ||
| NR_148941.2:n.1760+84_1760+85insAATT | ||
| NR_148942.2:n.1699+84_1699+85insAATT | ||
| NM_001354690.3:c.1370+84_1370+85insAATT | NP_001341619.1:n.1370+84_1370+85insAATT | |
| NM_001354691.3:c.1127+84_1127+85insAATT | NP_001341620.1:n.1127+84_1127+85insAATT | |
| NM_001354692.3:c.1127+84_1127+85insAATT | NP_001341621.1:n.1127+84_1127+85insAATT | |
| NM_001354693.3:c.1271+84_1271+85insAATT | NP_001341622.1:n.1271+84_1271+85insAATT | |
| NM_001354694.3:c.1187+84_1187+85insAATT | NP_001341623.1:n.1187+84_1187+85insAATT | |
| NM_001354695.3:c.1028+84_1028+85insAATT | NP_001341624.1:n.1028+84_1028+85insAATT | |
| NM_002880.4:c.1370+84_1370+85insAATT MANE Select | NP_002871.1:n.1370+84_1370+85insAATT | |
| NR_148940.3:n.1814+84_1814+85insAATT | ||
| NR_148941.3:n.1760+84_1760+85insAATT | ||
| NR_148942.3:n.1699+84_1699+85insAATT |