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.12590716_12590717insGGACA , CM000665.2:g.12590716_12590717insGGACA | GRCh38 |
| NC_000003.11:g.12632215_12632216insGGACA , CM000665.1:g.12632215_12632216insGGACA | GRCh37 |
| NC_000003.10:g.12607215_12607216insGGACA | NCBI36 |
| NG_007467.1:g.78463_78464insTGTCC , LRG_413:g.78463_78464insTGTCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1035+81_*1035+82insTGTCC | ENSP00000401088.1:n.*1035+81_*1035+82insT... | |
| ENST00000432427.3:c.687+81_687+82insTGTCC | ||
| ENST00000460610.2:n.245_246insTGTCC | ||
| ENST00000465826.6:n.961+81_961+82insTGTCC | ||
| ENST00000475353.2:n.1292+81_1292+82insTGTCC | ||
| ENST00000494557.2:n.1262_1263insTGTCC | ||
| ENST00000684903.1:c.*1047+81_*1047+82insTGTCC | ENSP00000508612.1:n.*1047+81_*1047+82insT... | |
| ENST00000685348.1:c.*1047+81_*1047+82insTGTCC | ENSP00000510285.1:n.*1047+81_*1047+82insT... | |
| ENST00000685437.1:c.1271+81_1271+82insTGTCC | ENSP00000508794.1:n.1271+81_1271+82insTGT... | |
| ENST00000685653.1:c.1370+81_1370+82insTGTCC | ENSP00000509968.1:n.1370+81_1370+82insTGT... | |
| ENST00000685738.1:c.*334+81_*334+82insTGTCC | ENSP00000510156.1:n.*334+81_*334+82insTGT... | |
| ENST00000686409.1:n.2421+81_2421+82insTGTCC | ||
| ENST00000686455.1:n.1733+81_1733+82insTGTCC | ||
| ENST00000686762.1:c.1370+81_1370+82insTGTCC | ENSP00000509767.1:n.1370+81_1370+82insTGT... | |
| ENST00000687257.1:n.1606+81_1606+82insTGTCC | ||
| ENST00000687326.1:c.*304+81_*304+82insTGTCC | ENSP00000509665.1:n.*304+81_*304+82insTGT... | |
| ENST00000687505.1:n.1488+81_1488+82insTGTCC | ||
| ENST00000687923.1:c.1259+81_1259+82insTGTCC | ENSP00000510255.1:n.1259+81_1259+82insTGT... | |
| ENST00000687940.1:n.1828_1829insTGTCC | ||
| ENST00000688269.1:n.1966+81_1966+82insTGTCC | ||
| ENST00000688326.1:c.803+81_803+82insTGTCC | ||
| ENST00000688444.1:n.1696+81_1696+82insTGTCC | ||
| ENST00000688543.1:c.1271+81_1271+82insTGTCC | ENSP00000509612.1:n.1271+81_1271+82insTGT... | |
| ENST00000688625.1:c.*948+81_*948+82insTGTCC | ENSP00000509522.1:n.*948+81_*948+82insTGT... | |
| ENST00000688803.1:n.1601+81_1601+82insTGTCC | ||
| ENST00000688914.1:n.356+81_356+82insTGTCC | ||
| ENST00000689097.1:c.*1047+81_*1047+82insTGTCC | ENSP00000509756.1:n.*1047+81_*1047+82insT... | |
| ENST00000689389.1:c.1193+991_1193+992insTGTCC | ENSP00000510213.1:n.1193+991_1193+992insT... | |
| ENST00000689418.1:c.*1047+81_*1047+82insTGTCC | ENSP00000509467.1:n.*1047+81_*1047+82insT... | |
| ENST00000689481.1:c.*1128_*1129insTGTCC | ENSP00000510248.1:n.*1128_*1129insTGTCC | |
| ENST00000689540.1:n.1520+81_1520+82insTGTCC | ||
| ENST00000689876.1:c.1370+81_1370+82insTGTCC | ENSP00000508535.1:n.1370+81_1370+82insTGT... | |
| ENST00000689914.1:c.*304+81_*304+82insTGTCC | ENSP00000509847.1:n.*304+81_*304+82insTGT... | |
| ENST00000690397.1:c.1259+81_1259+82insTGTCC | ENSP00000508730.1:n.1259+81_1259+82insTGT... | |
| ENST00000690460.1:c.1358+81_1358+82insTGTCC | ENSP00000509106.1:n.1358+81_1358+82insTGT... | |
| ENST00000690585.1:c.262+81_262+82insTGTCC | ||
| ENST00000690625.1:n.2406+81_2406+82insTGTCC | ||
| ENST00000691396.1:c.*1222+81_*1222+82insTGTCC | ENSP00000510712.1:n.*1222+81_*1222+82insT... | |
| ENST00000691724.1:c.*327+81_*327+82insTGTCC | ENSP00000509255.1:n.*327+81_*327+82insTGT... | |
| ENST00000691779.1:c.*948+81_*948+82insTGTCC | ENSP00000508592.1:n.*948+81_*948+82insTGT... | |
| ENST00000691888.1:c.262+81_262+82insTGTCC | ||
| ENST00000691899.1:c.1370+81_1370+82insTGTCC | ENSP00000508763.1:n.1370+81_1370+82insTGT... | |
| ENST00000692069.1:n.1936+81_1936+82insTGTCC | ||
| ENST00000692093.1:c.1271+81_1271+82insTGTCC | ENSP00000509669.1:n.1271+81_1271+82insTGT... | |
| ENST00000692311.1:n.2194+81_2194+82insTGTCC | ||
| ENST00000692558.1:n.1735+81_1735+82insTGTCC | ||
| ENST00000692773.1:c.*1107+81_*1107+82insTGTCC | ENSP00000509055.1:n.*1107+81_*1107+82insT... | |
| ENST00000692830.1:c.*1115+81_*1115+82insTGTCC | ENSP00000509461.1:n.*1115+81_*1115+82insT... | |
| ENST00000693312.1:c.1145+81_1145+82insTGTCC | ENSP00000508686.1:n.1145+81_1145+82insTGT... | |
| ENST00000693664.1:c.1370+81_1370+82insTGTCC | ENSP00000509614.1:n.1370+81_1370+82insTGT... | |
| ENST00000693705.1:c.*1047+81_*1047+82insTGTCC | ENSP00000510697.1:n.*1047+81_*1047+82insT... | |
| ENST00000251849.9:c.1370+81_1370+82insTGTCC MANE Select | ENSP00000251849.4:n.1370+81_1370+82insTGT... | |
| ENST00000442415.7:c.1430+81_1430+82insTGTCC | ENSP00000401888.2:n.1430+81_1430+82insTGT... | |
| ENST00000251849.8:c.1370+81_1370+82insTGTCC | ENSP00000251849.4:n.1370+81_1370+82insTGT... | |
| ENST00000423275.5:c.*1047+81_*1047+82insTGTCC | ENSP00000401088.1:n.*1047+81_*1047+82insT... | |
| ENST00000432427.2:c.1007+81_1007+82insTGTCC | ENSP00000398591.2:n.1007+81_1007+82insTGT... | |
| ENST00000442415.6:c.1430+81_1430+82insTGTCC | ENSP00000401888.2:n.1430+81_1430+82insTGT... | |
| ENST00000460610.1:n.408_409insTGTCC | ||
| ENST00000465826.5:n.727+81_727+82insTGTCC | ||
| ENST00000475353.1:n.538+81_538+82insTGTCC | ||
| ENST00000494557.1:n.467_468insTGTCC | ||
| NM_002880.3:c.1370+81_1370+82insTGTCC , LRG_413t1:c.1370+81_1370+82insTGTCC | NP_002871.1:n.1370+81_1370+82insTGTCC | |
| XM_005265355.1:c.1370+81_1370+82insTGTCC | XP_005265412.1:n.1370+81_1370+82insTGTCC | |
| XM_005265357.1:c.1271+81_1271+82insTGTCC | XP_005265414.1:n.1271+81_1271+82insTGTCC | |
| XM_005265358.3:c.1127+81_1127+82insTGTCC | XP_005265415.1:n.1127+81_1127+82insTGTCC | |
| XM_005265359.3:c.1028+81_1028+82insTGTCC | XP_005265416.1:n.1028+81_1028+82insTGTCC | |
| XM_005265360.1:c.1370+81_1370+82insTGTCC | XP_005265417.1:n.1370+81_1370+82insTGTCC | |
| XM_011533974.1:c.1370+81_1370+82insTGTCC | XP_011532276.1:n.1370+81_1370+82insTGTCC | |
| XM_011533975.1:c.1127+81_1127+82insTGTCC | XP_011532277.1:n.1127+81_1127+82insTGTCC | |
| NM_001354689.1:c.1430+81_1430+82insTGTCC | NP_001341618.1:n.1430+81_1430+82insTGTCC | |
| NM_001354690.1:c.1370+81_1370+82insTGTCC | NP_001341619.1:n.1370+81_1370+82insTGTCC | |
| NM_001354691.1:c.1127+81_1127+82insTGTCC | NP_001341620.1:n.1127+81_1127+82insTGTCC | |
| NM_001354692.1:c.1127+81_1127+82insTGTCC | NP_001341621.1:n.1127+81_1127+82insTGTCC | |
| NM_001354693.1:c.1271+81_1271+82insTGTCC | NP_001341622.1:n.1271+81_1271+82insTGTCC | |
| NM_001354694.1:c.1187+81_1187+82insTGTCC | NP_001341623.1:n.1187+81_1187+82insTGTCC | |
| NM_001354695.1:c.1028+81_1028+82insTGTCC | NP_001341624.1:n.1028+81_1028+82insTGTCC | |
| NR_148940.1:n.1898+81_1898+82insTGTCC | ||
| NR_148941.1:n.1844+81_1844+82insTGTCC | ||
| NR_148942.1:n.1783+81_1783+82insTGTCC | ||
| XM_011533974.3:c.1370+81_1370+82insTGTCC | XP_011532276.1:n.1370+81_1370+82insTGTCC | |
| XM_017006966.1:c.1271+81_1271+82insTGTCC | XP_016862455.1:n.1271+81_1271+82insTGTCC | |
| NM_001354689.3:c.1430+81_1430+82insTGTCC | NP_001341618.1:n.1430+81_1430+82insTGTCC | |
| NM_001354690.2:c.1370+81_1370+82insTGTCC | NP_001341619.1:n.1370+81_1370+82insTGTCC | |
| NM_001354691.2:c.1127+81_1127+82insTGTCC | NP_001341620.1:n.1127+81_1127+82insTGTCC | |
| NM_001354692.2:c.1127+81_1127+82insTGTCC | NP_001341621.1:n.1127+81_1127+82insTGTCC | |
| NM_001354693.2:c.1271+81_1271+82insTGTCC | NP_001341622.1:n.1271+81_1271+82insTGTCC | |
| NM_001354694.2:c.1187+81_1187+82insTGTCC | NP_001341623.1:n.1187+81_1187+82insTGTCC | |
| NM_001354695.2:c.1028+81_1028+82insTGTCC | NP_001341624.1:n.1028+81_1028+82insTGTCC | |
| NR_148940.2:n.1814+81_1814+82insTGTCC | ||
| NR_148941.2:n.1760+81_1760+82insTGTCC | ||
| NR_148942.2:n.1699+81_1699+82insTGTCC | ||
| NM_001354690.3:c.1370+81_1370+82insTGTCC | NP_001341619.1:n.1370+81_1370+82insTGTCC | |
| NM_001354691.3:c.1127+81_1127+82insTGTCC | NP_001341620.1:n.1127+81_1127+82insTGTCC | |
| NM_001354692.3:c.1127+81_1127+82insTGTCC | NP_001341621.1:n.1127+81_1127+82insTGTCC | |
| NM_001354693.3:c.1271+81_1271+82insTGTCC | NP_001341622.1:n.1271+81_1271+82insTGTCC | |
| NM_001354694.3:c.1187+81_1187+82insTGTCC | NP_001341623.1:n.1187+81_1187+82insTGTCC | |
| NM_001354695.3:c.1028+81_1028+82insTGTCC | NP_001341624.1:n.1028+81_1028+82insTGTCC | |
| NM_002880.4:c.1370+81_1370+82insTGTCC MANE Select | NP_002871.1:n.1370+81_1370+82insTGTCC | |
| NR_148940.3:n.1814+81_1814+82insTGTCC | ||
| NR_148941.3:n.1760+81_1760+82insTGTCC | ||
| NR_148942.3:n.1699+81_1699+82insTGTCC |