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.12590607_12590608del , CM000665.2:g.12590607_12590608del | GRCh38 |
| NC_000003.11:g.12632106_12632107del , CM000665.1:g.12632106_12632107del | GRCh37 |
| NC_000003.10:g.12607106_12607107del | NCBI36 |
| NG_007467.1:g.78575_78576del , LRG_413:g.78575_78576del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1035+193_*1035+194del | ENSP00000401088.1:n.*1035+193_*1035+194del | |
| ENST00000432427.3:c.687+193_687+194del | ||
| ENST00000460610.2:n.357_358del | ||
| ENST00000465826.6:n.961+193_961+194del | ||
| ENST00000475353.2:n.1292+193_1292+194del | ||
| ENST00000494557.2:n.1374_1375del | ||
| ENST00000684903.1:c.*1047+193_*1047+194del | ENSP00000508612.1:n.*1047+193_*1047+194del | |
| ENST00000685348.1:c.*1047+193_*1047+194del | ENSP00000510285.1:n.*1047+193_*1047+194del | |
| ENST00000685437.1:c.1271+193_1271+194del | ENSP00000508794.1:n.1271+193_1271+194del | |
| ENST00000685653.1:c.1370+193_1370+194del | ENSP00000509968.1:n.1370+193_1370+194del | |
| ENST00000685738.1:c.*334+193_*334+194del | ENSP00000510156.1:n.*334+193_*334+194del | |
| ENST00000686409.1:n.2421+193_2421+194del | ||
| ENST00000686455.1:n.1733+193_1733+194del | ||
| ENST00000686762.1:c.1370+193_1370+194del | ENSP00000509767.1:n.1370+193_1370+194del | |
| ENST00000687257.1:n.1606+193_1606+194del | ||
| ENST00000687326.1:c.*304+193_*304+194del | ENSP00000509665.1:n.*304+193_*304+194del | |
| ENST00000687505.1:n.1488+193_1488+194del | ||
| ENST00000687923.1:c.1259+193_1259+194del | ENSP00000510255.1:n.1259+193_1259+194del | |
| ENST00000687940.1:n.1940_1941del | ||
| ENST00000688269.1:n.1966+193_1966+194del | ||
| ENST00000688326.1:c.803+193_803+194del | ||
| ENST00000688444.1:n.1696+193_1696+194del | ||
| ENST00000688543.1:c.1271+193_1271+194del | ENSP00000509612.1:n.1271+193_1271+194del | |
| ENST00000688625.1:c.*948+193_*948+194del | ENSP00000509522.1:n.*948+193_*948+194del | |
| ENST00000688803.1:n.1601+193_1601+194del | ||
| ENST00000688914.1:n.356+193_356+194del | ||
| ENST00000689097.1:c.*1047+193_*1047+194del | ENSP00000509756.1:n.*1047+193_*1047+194del | |
| ENST00000689389.1:c.1193+1103_1193+1104del | ENSP00000510213.1:n.1193+1103_1193+1104del | |
| ENST00000689418.1:c.*1047+193_*1047+194del | ENSP00000509467.1:n.*1047+193_*1047+194del | |
| ENST00000689481.1:c.*1240_*1241del | ENSP00000510248.1:n.*1240_*1241del | |
| ENST00000689540.1:n.1520+193_1520+194del | ||
| ENST00000689876.1:c.1370+193_1370+194del | ENSP00000508535.1:n.1370+193_1370+194del | |
| ENST00000689914.1:c.*304+193_*304+194del | ENSP00000509847.1:n.*304+193_*304+194del | |
| ENST00000690397.1:c.1259+193_1259+194del | ENSP00000508730.1:n.1259+193_1259+194del | |
| ENST00000690460.1:c.1358+193_1358+194del | ENSP00000509106.1:n.1358+193_1358+194del | |
| ENST00000690585.1:c.262+193_262+194del | ||
| ENST00000690625.1:n.2406+193_2406+194del | ||
| ENST00000691396.1:c.*1222+193_*1222+194del | ENSP00000510712.1:n.*1222+193_*1222+194del | |
| ENST00000691724.1:c.*327+193_*327+194del | ENSP00000509255.1:n.*327+193_*327+194del | |
| ENST00000691779.1:c.*948+193_*948+194del | ENSP00000508592.1:n.*948+193_*948+194del | |
| ENST00000691888.1:c.262+193_262+194del | ||
| ENST00000691899.1:c.1370+193_1370+194del | ENSP00000508763.1:n.1370+193_1370+194del | |
| ENST00000692069.1:n.1936+193_1936+194del | ||
| ENST00000692093.1:c.1271+193_1271+194del | ENSP00000509669.1:n.1271+193_1271+194del | |
| ENST00000692311.1:n.2194+193_2194+194del | ||
| ENST00000692558.1:n.1735+193_1735+194del | ||
| ENST00000692773.1:c.*1107+193_*1107+194del | ENSP00000509055.1:n.*1107+193_*1107+194del | |
| ENST00000692830.1:c.*1115+193_*1115+194del | ENSP00000509461.1:n.*1115+193_*1115+194del | |
| ENST00000693312.1:c.1145+193_1145+194del | ENSP00000508686.1:n.1145+193_1145+194del | |
| ENST00000693664.1:c.1370+193_1370+194del | ENSP00000509614.1:n.1370+193_1370+194del | |
| ENST00000693705.1:c.*1047+193_*1047+194del | ENSP00000510697.1:n.*1047+193_*1047+194del | |
| ENST00000251849.9:c.1370+193_1370+194del MANE Select | ENSP00000251849.4:n.1370+193_1370+194del | |
| ENST00000442415.7:c.1430+193_1430+194del | ENSP00000401888.2:n.1430+193_1430+194del | |
| ENST00000251849.8:c.1370+193_1370+194del | ENSP00000251849.4:n.1370+193_1370+194del | |
| ENST00000423275.5:c.*1047+193_*1047+194del | ENSP00000401088.1:n.*1047+193_*1047+194del | |
| ENST00000432427.2:c.1007+193_1007+194del | ENSP00000398591.2:n.1007+193_1007+194del | |
| ENST00000442415.6:c.1430+193_1430+194del | ENSP00000401888.2:n.1430+193_1430+194del | |
| ENST00000465826.5:n.727+193_727+194del | ||
| ENST00000475353.1:n.538+193_538+194del | ||
| ENST00000494557.1:n.579_580del | ||
| NM_002880.3:c.1370+193_1370+194del , LRG_413t1:c.1370+193_1370+194del | NP_002871.1:n.1370+193_1370+194del | |
| XM_005265355.1:c.1370+193_1370+194del | XP_005265412.1:n.1370+193_1370+194del | |
| XM_005265357.1:c.1271+193_1271+194del | XP_005265414.1:n.1271+193_1271+194del | |
| XM_005265358.3:c.1127+193_1127+194del | XP_005265415.1:n.1127+193_1127+194del | |
| XM_005265359.3:c.1028+193_1028+194del | XP_005265416.1:n.1028+193_1028+194del | |
| XM_005265360.1:c.1370+193_1370+194del | XP_005265417.1:n.1370+193_1370+194del | |
| XM_011533974.1:c.1370+193_1370+194del | XP_011532276.1:n.1370+193_1370+194del | |
| XM_011533975.1:c.1127+193_1127+194del | XP_011532277.1:n.1127+193_1127+194del | |
| NM_001354689.1:c.1430+193_1430+194del | NP_001341618.1:n.1430+193_1430+194del | |
| NM_001354690.1:c.1370+193_1370+194del | NP_001341619.1:n.1370+193_1370+194del | |
| NM_001354691.1:c.1127+193_1127+194del | NP_001341620.1:n.1127+193_1127+194del | |
| NM_001354692.1:c.1127+193_1127+194del | NP_001341621.1:n.1127+193_1127+194del | |
| NM_001354693.1:c.1271+193_1271+194del | NP_001341622.1:n.1271+193_1271+194del | |
| NM_001354694.1:c.1187+193_1187+194del | NP_001341623.1:n.1187+193_1187+194del | |
| NM_001354695.1:c.1028+193_1028+194del | NP_001341624.1:n.1028+193_1028+194del | |
| NR_148940.1:n.1898+193_1898+194del | ||
| NR_148941.1:n.1844+193_1844+194del | ||
| NR_148942.1:n.1783+193_1783+194del | ||
| XM_011533974.3:c.1370+193_1370+194del | XP_011532276.1:n.1370+193_1370+194del | |
| XM_017006966.1:c.1271+193_1271+194del | XP_016862455.1:n.1271+193_1271+194del | |
| NM_001354689.3:c.1430+193_1430+194del | NP_001341618.1:n.1430+193_1430+194del | |
| NM_001354690.2:c.1370+193_1370+194del | NP_001341619.1:n.1370+193_1370+194del | |
| NM_001354691.2:c.1127+193_1127+194del | NP_001341620.1:n.1127+193_1127+194del | |
| NM_001354692.2:c.1127+193_1127+194del | NP_001341621.1:n.1127+193_1127+194del | |
| NM_001354693.2:c.1271+193_1271+194del | NP_001341622.1:n.1271+193_1271+194del | |
| NM_001354694.2:c.1187+193_1187+194del | NP_001341623.1:n.1187+193_1187+194del | |
| NM_001354695.2:c.1028+193_1028+194del | NP_001341624.1:n.1028+193_1028+194del | |
| NR_148940.2:n.1814+193_1814+194del | ||
| NR_148941.2:n.1760+193_1760+194del | ||
| NR_148942.2:n.1699+193_1699+194del | ||
| NM_001354690.3:c.1370+193_1370+194del | NP_001341619.1:n.1370+193_1370+194del | |
| NM_001354691.3:c.1127+193_1127+194del | NP_001341620.1:n.1127+193_1127+194del | |
| NM_001354692.3:c.1127+193_1127+194del | NP_001341621.1:n.1127+193_1127+194del | |
| NM_001354693.3:c.1271+193_1271+194del | NP_001341622.1:n.1271+193_1271+194del | |
| NM_001354694.3:c.1187+193_1187+194del | NP_001341623.1:n.1187+193_1187+194del | |
| NM_001354695.3:c.1028+193_1028+194del | NP_001341624.1:n.1028+193_1028+194del | |
| NM_002880.4:c.1370+193_1370+194del MANE Select | NP_002871.1:n.1370+193_1370+194del | |
| NR_148940.3:n.1814+193_1814+194del | ||
| NR_148941.3:n.1760+193_1760+194del | ||
| NR_148942.3:n.1699+193_1699+194del |