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.
Linked Data
gnomAD v4:
3-12590610-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12590611_12590612del , CM000665.2:g.12590611_12590612del | GRCh38 |
| NC_000003.11:g.12632110_12632111del , CM000665.1:g.12632110_12632111del | GRCh37 |
| NC_000003.10:g.12607110_12607111del | NCBI36 |
| NG_007467.1:g.78568_78569del , LRG_413:g.78568_78569del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1035+186_*1035+187del | ENSP00000401088.1:n.*1035+186_*1035+187del | |
| ENST00000432427.3:c.687+186_687+187del | ||
| ENST00000460610.2:n.350_351del | ||
| ENST00000465826.6:n.961+186_961+187del | ||
| ENST00000475353.2:n.1292+186_1292+187del | ||
| ENST00000494557.2:n.1367_1368del | ||
| ENST00000684903.1:c.*1047+186_*1047+187del | ENSP00000508612.1:n.*1047+186_*1047+187del | |
| ENST00000685348.1:c.*1047+186_*1047+187del | ENSP00000510285.1:n.*1047+186_*1047+187del | |
| ENST00000685437.1:c.1271+186_1271+187del | ENSP00000508794.1:n.1271+186_1271+187del | |
| ENST00000685653.1:c.1370+186_1370+187del | ENSP00000509968.1:n.1370+186_1370+187del | |
| ENST00000685738.1:c.*334+186_*334+187del | ENSP00000510156.1:n.*334+186_*334+187del | |
| ENST00000686409.1:n.2421+186_2421+187del | ||
| ENST00000686455.1:n.1733+186_1733+187del | ||
| ENST00000686762.1:c.1370+186_1370+187del | ENSP00000509767.1:n.1370+186_1370+187del | |
| ENST00000687257.1:n.1606+186_1606+187del | ||
| ENST00000687326.1:c.*304+186_*304+187del | ENSP00000509665.1:n.*304+186_*304+187del | |
| ENST00000687505.1:n.1488+186_1488+187del | ||
| ENST00000687923.1:c.1259+186_1259+187del | ENSP00000510255.1:n.1259+186_1259+187del | |
| ENST00000687940.1:n.1933_1934del | ||
| ENST00000688269.1:n.1966+186_1966+187del | ||
| ENST00000688326.1:c.803+186_803+187del | ||
| ENST00000688444.1:n.1696+186_1696+187del | ||
| ENST00000688543.1:c.1271+186_1271+187del | ENSP00000509612.1:n.1271+186_1271+187del | |
| ENST00000688625.1:c.*948+186_*948+187del | ENSP00000509522.1:n.*948+186_*948+187del | |
| ENST00000688803.1:n.1601+186_1601+187del | ||
| ENST00000688914.1:n.356+186_356+187del | ||
| ENST00000689097.1:c.*1047+186_*1047+187del | ENSP00000509756.1:n.*1047+186_*1047+187del | |
| ENST00000689389.1:c.1193+1096_1193+1097del | ENSP00000510213.1:n.1193+1096_1193+1097del | |
| ENST00000689418.1:c.*1047+186_*1047+187del | ENSP00000509467.1:n.*1047+186_*1047+187del | |
| ENST00000689481.1:c.*1233_*1234del | ENSP00000510248.1:n.*1233_*1234del | |
| ENST00000689540.1:n.1520+186_1520+187del | ||
| ENST00000689876.1:c.1370+186_1370+187del | ENSP00000508535.1:n.1370+186_1370+187del | |
| ENST00000689914.1:c.*304+186_*304+187del | ENSP00000509847.1:n.*304+186_*304+187del | |
| ENST00000690397.1:c.1259+186_1259+187del | ENSP00000508730.1:n.1259+186_1259+187del | |
| ENST00000690460.1:c.1358+186_1358+187del | ENSP00000509106.1:n.1358+186_1358+187del | |
| ENST00000690585.1:c.262+186_262+187del | ||
| ENST00000690625.1:n.2406+186_2406+187del | ||
| ENST00000691396.1:c.*1222+186_*1222+187del | ENSP00000510712.1:n.*1222+186_*1222+187del | |
| ENST00000691724.1:c.*327+186_*327+187del | ENSP00000509255.1:n.*327+186_*327+187del | |
| ENST00000691779.1:c.*948+186_*948+187del | ENSP00000508592.1:n.*948+186_*948+187del | |
| ENST00000691888.1:c.262+186_262+187del | ||
| ENST00000691899.1:c.1370+186_1370+187del | ENSP00000508763.1:n.1370+186_1370+187del | |
| ENST00000692069.1:n.1936+186_1936+187del | ||
| ENST00000692093.1:c.1271+186_1271+187del | ENSP00000509669.1:n.1271+186_1271+187del | |
| ENST00000692311.1:n.2194+186_2194+187del | ||
| ENST00000692558.1:n.1735+186_1735+187del | ||
| ENST00000692773.1:c.*1107+186_*1107+187del | ENSP00000509055.1:n.*1107+186_*1107+187del | |
| ENST00000692830.1:c.*1115+186_*1115+187del | ENSP00000509461.1:n.*1115+186_*1115+187del | |
| ENST00000693312.1:c.1145+186_1145+187del | ENSP00000508686.1:n.1145+186_1145+187del | |
| ENST00000693664.1:c.1370+186_1370+187del | ENSP00000509614.1:n.1370+186_1370+187del | |
| ENST00000693705.1:c.*1047+186_*1047+187del | ENSP00000510697.1:n.*1047+186_*1047+187del | |
| ENST00000251849.9:c.1370+186_1370+187del MANE Select | ENSP00000251849.4:n.1370+186_1370+187del | |
| ENST00000442415.7:c.1430+186_1430+187del | ENSP00000401888.2:n.1430+186_1430+187del | |
| ENST00000251849.8:c.1370+186_1370+187del | ENSP00000251849.4:n.1370+186_1370+187del | |
| ENST00000423275.5:c.*1047+186_*1047+187del | ENSP00000401088.1:n.*1047+186_*1047+187del | |
| ENST00000432427.2:c.1007+186_1007+187del | ENSP00000398591.2:n.1007+186_1007+187del | |
| ENST00000442415.6:c.1430+186_1430+187del | ENSP00000401888.2:n.1430+186_1430+187del | |
| ENST00000465826.5:n.727+186_727+187del | ||
| ENST00000475353.1:n.538+186_538+187del | ||
| ENST00000494557.1:n.572_573del | ||
| NM_002880.3:c.1370+186_1370+187del , LRG_413t1:c.1370+186_1370+187del | NP_002871.1:n.1370+186_1370+187del | |
| XM_005265355.1:c.1370+186_1370+187del | XP_005265412.1:n.1370+186_1370+187del | |
| XM_005265357.1:c.1271+186_1271+187del | XP_005265414.1:n.1271+186_1271+187del | |
| XM_005265358.3:c.1127+186_1127+187del | XP_005265415.1:n.1127+186_1127+187del | |
| XM_005265359.3:c.1028+186_1028+187del | XP_005265416.1:n.1028+186_1028+187del | |
| XM_005265360.1:c.1370+186_1370+187del | XP_005265417.1:n.1370+186_1370+187del | |
| XM_011533974.1:c.1370+186_1370+187del | XP_011532276.1:n.1370+186_1370+187del | |
| XM_011533975.1:c.1127+186_1127+187del | XP_011532277.1:n.1127+186_1127+187del | |
| NM_001354689.1:c.1430+186_1430+187del | NP_001341618.1:n.1430+186_1430+187del | |
| NM_001354690.1:c.1370+186_1370+187del | NP_001341619.1:n.1370+186_1370+187del | |
| NM_001354691.1:c.1127+186_1127+187del | NP_001341620.1:n.1127+186_1127+187del | |
| NM_001354692.1:c.1127+186_1127+187del | NP_001341621.1:n.1127+186_1127+187del | |
| NM_001354693.1:c.1271+186_1271+187del | NP_001341622.1:n.1271+186_1271+187del | |
| NM_001354694.1:c.1187+186_1187+187del | NP_001341623.1:n.1187+186_1187+187del | |
| NM_001354695.1:c.1028+186_1028+187del | NP_001341624.1:n.1028+186_1028+187del | |
| NR_148940.1:n.1898+186_1898+187del | ||
| NR_148941.1:n.1844+186_1844+187del | ||
| NR_148942.1:n.1783+186_1783+187del | ||
| XM_011533974.3:c.1370+186_1370+187del | XP_011532276.1:n.1370+186_1370+187del | |
| XM_017006966.1:c.1271+186_1271+187del | XP_016862455.1:n.1271+186_1271+187del | |
| NM_001354689.3:c.1430+186_1430+187del | NP_001341618.1:n.1430+186_1430+187del | |
| NM_001354690.2:c.1370+186_1370+187del | NP_001341619.1:n.1370+186_1370+187del | |
| NM_001354691.2:c.1127+186_1127+187del | NP_001341620.1:n.1127+186_1127+187del | |
| NM_001354692.2:c.1127+186_1127+187del | NP_001341621.1:n.1127+186_1127+187del | |
| NM_001354693.2:c.1271+186_1271+187del | NP_001341622.1:n.1271+186_1271+187del | |
| NM_001354694.2:c.1187+186_1187+187del | NP_001341623.1:n.1187+186_1187+187del | |
| NM_001354695.2:c.1028+186_1028+187del | NP_001341624.1:n.1028+186_1028+187del | |
| NR_148940.2:n.1814+186_1814+187del | ||
| NR_148941.2:n.1760+186_1760+187del | ||
| NR_148942.2:n.1699+186_1699+187del | ||
| NM_001354690.3:c.1370+186_1370+187del | NP_001341619.1:n.1370+186_1370+187del | |
| NM_001354691.3:c.1127+186_1127+187del | NP_001341620.1:n.1127+186_1127+187del | |
| NM_001354692.3:c.1127+186_1127+187del | NP_001341621.1:n.1127+186_1127+187del | |
| NM_001354693.3:c.1271+186_1271+187del | NP_001341622.1:n.1271+186_1271+187del | |
| NM_001354694.3:c.1187+186_1187+187del | NP_001341623.1:n.1187+186_1187+187del | |
| NM_001354695.3:c.1028+186_1028+187del | NP_001341624.1:n.1028+186_1028+187del | |
| NM_002880.4:c.1370+186_1370+187del MANE Select | NP_002871.1:n.1370+186_1370+187del | |
| NR_148940.3:n.1814+186_1814+187del | ||
| NR_148941.3:n.1760+186_1760+187del | ||
| NR_148942.3:n.1699+186_1699+187del |