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_000003.12:g.12590698_12590699delinsGA , CM000665.2:g.12590698_12590699delinsGA | GRCh38 |
| NC_000003.11:g.12632197_12632198delinsGA , CM000665.1:g.12632197_12632198delinsGA | GRCh37 |
| NC_000003.10:g.12607197_12607198delinsGA | NCBI36 |
| NG_007467.1:g.78481_78482delinsTC , LRG_413:g.78481_78482delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1035+99_*1035+100delinsTC | ENSP00000401088.1:n.*1035+99_*1035+100del... | |
| ENST00000432427.3:c.687+99_687+100delinsTC | ||
| ENST00000460610.2:n.263_264delinsTC | ||
| ENST00000465826.6:n.961+99_961+100delinsTC | ||
| ENST00000475353.2:n.1292+99_1292+100delinsTC | ||
| ENST00000494557.2:n.1280_1281delinsTC | ||
| ENST00000684903.1:c.*1047+99_*1047+100delinsTC | ENSP00000508612.1:n.*1047+99_*1047+100del... | |
| ENST00000685348.1:c.*1047+99_*1047+100delinsTC | ENSP00000510285.1:n.*1047+99_*1047+100del... | |
| ENST00000685437.1:c.1271+99_1271+100delinsTC | ENSP00000508794.1:n.1271+99_1271+100delin... | |
| ENST00000685653.1:c.1370+99_1370+100delinsTC | ENSP00000509968.1:n.1370+99_1370+100delin... | |
| ENST00000685738.1:c.*334+99_*334+100delinsTC | ENSP00000510156.1:n.*334+99_*334+100delin... | |
| ENST00000686409.1:n.2421+99_2421+100delinsTC | ||
| ENST00000686455.1:n.1733+99_1733+100delinsTC | ||
| ENST00000686762.1:c.1370+99_1370+100delinsTC | ENSP00000509767.1:n.1370+99_1370+100delin... | |
| ENST00000687257.1:n.1606+99_1606+100delinsTC | ||
| ENST00000687326.1:c.*304+99_*304+100delinsTC | ENSP00000509665.1:n.*304+99_*304+100delin... | |
| ENST00000687505.1:n.1488+99_1488+100delinsTC | ||
| ENST00000687923.1:c.1259+99_1259+100delinsTC | ENSP00000510255.1:n.1259+99_1259+100delin... | |
| ENST00000687940.1:n.1846_1847delinsTC | ||
| ENST00000688269.1:n.1966+99_1966+100delinsTC | ||
| ENST00000688326.1:c.803+99_803+100delinsTC | ||
| ENST00000688444.1:n.1696+99_1696+100delinsTC | ||
| ENST00000688543.1:c.1271+99_1271+100delinsTC | ENSP00000509612.1:n.1271+99_1271+100delin... | |
| ENST00000688625.1:c.*948+99_*948+100delinsTC | ENSP00000509522.1:n.*948+99_*948+100delin... | |
| ENST00000688803.1:n.1601+99_1601+100delinsTC | ||
| ENST00000688914.1:n.356+99_356+100delinsTC | ||
| ENST00000689097.1:c.*1047+99_*1047+100delinsTC | ENSP00000509756.1:n.*1047+99_*1047+100del... | |
| ENST00000689389.1:c.1193+1009_1193+1010delinsTC | ENSP00000510213.1:n.1193+1009_1193+1010de... | |
| ENST00000689418.1:c.*1047+99_*1047+100delinsTC | ENSP00000509467.1:n.*1047+99_*1047+100del... | |
| ENST00000689481.1:c.*1146_*1147delinsTC | ENSP00000510248.1:n.*1146_*1147delinsTC | |
| ENST00000689540.1:n.1520+99_1520+100delinsTC | ||
| ENST00000689876.1:c.1370+99_1370+100delinsTC | ENSP00000508535.1:n.1370+99_1370+100delin... | |
| ENST00000689914.1:c.*304+99_*304+100delinsTC | ENSP00000509847.1:n.*304+99_*304+100delin... | |
| ENST00000690397.1:c.1259+99_1259+100delinsTC | ENSP00000508730.1:n.1259+99_1259+100delin... | |
| ENST00000690460.1:c.1358+99_1358+100delinsTC | ENSP00000509106.1:n.1358+99_1358+100delin... | |
| ENST00000690585.1:c.262+99_262+100delinsTC | ||
| ENST00000690625.1:n.2406+99_2406+100delinsTC | ||
| ENST00000691396.1:c.*1222+99_*1222+100delinsTC | ENSP00000510712.1:n.*1222+99_*1222+100del... | |
| ENST00000691724.1:c.*327+99_*327+100delinsTC | ENSP00000509255.1:n.*327+99_*327+100delin... | |
| ENST00000691779.1:c.*948+99_*948+100delinsTC | ENSP00000508592.1:n.*948+99_*948+100delin... | |
| ENST00000691888.1:c.262+99_262+100delinsTC | ||
| ENST00000691899.1:c.1370+99_1370+100delinsTC | ENSP00000508763.1:n.1370+99_1370+100delin... | |
| ENST00000692069.1:n.1936+99_1936+100delinsTC | ||
| ENST00000692093.1:c.1271+99_1271+100delinsTC | ENSP00000509669.1:n.1271+99_1271+100delin... | |
| ENST00000692311.1:n.2194+99_2194+100delinsTC | ||
| ENST00000692558.1:n.1735+99_1735+100delinsTC | ||
| ENST00000692773.1:c.*1107+99_*1107+100delinsTC | ENSP00000509055.1:n.*1107+99_*1107+100del... | |
| ENST00000692830.1:c.*1115+99_*1115+100delinsTC | ENSP00000509461.1:n.*1115+99_*1115+100del... | |
| ENST00000693312.1:c.1145+99_1145+100delinsTC | ENSP00000508686.1:n.1145+99_1145+100delin... | |
| ENST00000693664.1:c.1370+99_1370+100delinsTC | ENSP00000509614.1:n.1370+99_1370+100delin... | |
| ENST00000693705.1:c.*1047+99_*1047+100delinsTC | ENSP00000510697.1:n.*1047+99_*1047+100del... | |
| ENST00000251849.9:c.1370+99_1370+100delinsTC MANE Select | ENSP00000251849.4:n.1370+99_1370+100delin... | |
| ENST00000442415.7:c.1430+99_1430+100delinsTC | ENSP00000401888.2:n.1430+99_1430+100delin... | |
| ENST00000251849.8:c.1370+99_1370+100delinsTC | ENSP00000251849.4:n.1370+99_1370+100delin... | |
| ENST00000423275.5:c.*1047+99_*1047+100delinsTC | ENSP00000401088.1:n.*1047+99_*1047+100del... | |
| ENST00000432427.2:c.1007+99_1007+100delinsTC | ENSP00000398591.2:n.1007+99_1007+100delin... | |
| ENST00000442415.6:c.1430+99_1430+100delinsTC | ENSP00000401888.2:n.1430+99_1430+100delin... | |
| ENST00000460610.1:n.426_427delinsTC | ||
| ENST00000465826.5:n.727+99_727+100delinsTC | ||
| ENST00000475353.1:n.538+99_538+100delinsTC | ||
| ENST00000494557.1:n.485_486delinsTC | ||
| NM_002880.3:c.1370+99_1370+100delinsTC , LRG_413t1:c.1370+99_1370+100delinsTC | NP_002871.1:n.1370+99_1370+100delinsTC | |
| XM_005265355.1:c.1370+99_1370+100delinsTC | XP_005265412.1:n.1370+99_1370+100delinsTC... | |
| XM_005265357.1:c.1271+99_1271+100delinsTC | XP_005265414.1:n.1271+99_1271+100delinsTC... | |
| XM_005265358.3:c.1127+99_1127+100delinsTC | XP_005265415.1:n.1127+99_1127+100delinsTC... | |
| XM_005265359.3:c.1028+99_1028+100delinsTC | XP_005265416.1:n.1028+99_1028+100delinsTC... | |
| XM_005265360.1:c.1370+99_1370+100delinsTC | XP_005265417.1:n.1370+99_1370+100delinsTC... | |
| XM_011533974.1:c.1370+99_1370+100delinsTC | XP_011532276.1:n.1370+99_1370+100delinsTC... | |
| XM_011533975.1:c.1127+99_1127+100delinsTC | XP_011532277.1:n.1127+99_1127+100delinsTC... | |
| NM_001354689.1:c.1430+99_1430+100delinsTC | NP_001341618.1:n.1430+99_1430+100delinsTC... | |
| NM_001354690.1:c.1370+99_1370+100delinsTC | NP_001341619.1:n.1370+99_1370+100delinsTC... | |
| NM_001354691.1:c.1127+99_1127+100delinsTC | NP_001341620.1:n.1127+99_1127+100delinsTC... | |
| NM_001354692.1:c.1127+99_1127+100delinsTC | NP_001341621.1:n.1127+99_1127+100delinsTC... | |
| NM_001354693.1:c.1271+99_1271+100delinsTC | NP_001341622.1:n.1271+99_1271+100delinsTC... | |
| NM_001354694.1:c.1187+99_1187+100delinsTC | NP_001341623.1:n.1187+99_1187+100delinsTC... | |
| NM_001354695.1:c.1028+99_1028+100delinsTC | NP_001341624.1:n.1028+99_1028+100delinsTC... | |
| NR_148940.1:n.1898+99_1898+100delinsTC | ||
| NR_148941.1:n.1844+99_1844+100delinsTC | ||
| NR_148942.1:n.1783+99_1783+100delinsTC | ||
| XM_011533974.3:c.1370+99_1370+100delinsTC | XP_011532276.1:n.1370+99_1370+100delinsTC... | |
| XM_017006966.1:c.1271+99_1271+100delinsTC | XP_016862455.1:n.1271+99_1271+100delinsTC... | |
| NM_001354689.3:c.1430+99_1430+100delinsTC | NP_001341618.1:n.1430+99_1430+100delinsTC... | |
| NM_001354690.2:c.1370+99_1370+100delinsTC | NP_001341619.1:n.1370+99_1370+100delinsTC... | |
| NM_001354691.2:c.1127+99_1127+100delinsTC | NP_001341620.1:n.1127+99_1127+100delinsTC... | |
| NM_001354692.2:c.1127+99_1127+100delinsTC | NP_001341621.1:n.1127+99_1127+100delinsTC... | |
| NM_001354693.2:c.1271+99_1271+100delinsTC | NP_001341622.1:n.1271+99_1271+100delinsTC... | |
| NM_001354694.2:c.1187+99_1187+100delinsTC | NP_001341623.1:n.1187+99_1187+100delinsTC... | |
| NM_001354695.2:c.1028+99_1028+100delinsTC | NP_001341624.1:n.1028+99_1028+100delinsTC... | |
| NR_148940.2:n.1814+99_1814+100delinsTC | ||
| NR_148941.2:n.1760+99_1760+100delinsTC | ||
| NR_148942.2:n.1699+99_1699+100delinsTC | ||
| NM_001354690.3:c.1370+99_1370+100delinsTC | NP_001341619.1:n.1370+99_1370+100delinsTC... | |
| NM_001354691.3:c.1127+99_1127+100delinsTC | NP_001341620.1:n.1127+99_1127+100delinsTC... | |
| NM_001354692.3:c.1127+99_1127+100delinsTC | NP_001341621.1:n.1127+99_1127+100delinsTC... | |
| NM_001354693.3:c.1271+99_1271+100delinsTC | NP_001341622.1:n.1271+99_1271+100delinsTC... | |
| NM_001354694.3:c.1187+99_1187+100delinsTC | NP_001341623.1:n.1187+99_1187+100delinsTC... | |
| NM_001354695.3:c.1028+99_1028+100delinsTC | NP_001341624.1:n.1028+99_1028+100delinsTC... | |
| NM_002880.4:c.1370+99_1370+100delinsTC MANE Select | NP_002871.1:n.1370+99_1370+100delinsTC | |
| NR_148940.3:n.1814+99_1814+100delinsTC | ||
| NR_148941.3:n.1760+99_1760+100delinsTC | ||
| NR_148942.3:n.1699+99_1699+100delinsTC |