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.12590725_12590729del , CM000665.2:g.12590725_12590729del | GRCh38 |
| NC_000003.11:g.12632224_12632228del , CM000665.1:g.12632224_12632228del | GRCh37 |
| NC_000003.10:g.12607224_12607228del | NCBI36 |
| NG_007467.1:g.78451_78455del , LRG_413:g.78451_78455del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1035+69_*1035+73del | ENSP00000401088.1:n.*1035+69_*1035+73del | |
| ENST00000432427.3:c.687+69_687+73del | ||
| ENST00000460610.2:n.233_237del | ||
| ENST00000465826.6:n.961+69_961+73del | ||
| ENST00000475353.2:n.1292+69_1292+73del | ||
| ENST00000494557.2:n.1250_1254del | ||
| ENST00000684903.1:c.*1047+69_*1047+73del | ENSP00000508612.1:n.*1047+69_*1047+73del | |
| ENST00000685348.1:c.*1047+69_*1047+73del | ENSP00000510285.1:n.*1047+69_*1047+73del | |
| ENST00000685437.1:c.1271+69_1271+73del | ENSP00000508794.1:n.1271+69_1271+73del | |
| ENST00000685653.1:c.1370+69_1370+73del | ENSP00000509968.1:n.1370+69_1370+73del | |
| ENST00000685738.1:c.*334+69_*334+73del | ENSP00000510156.1:n.*334+69_*334+73del | |
| ENST00000686409.1:n.2421+69_2421+73del | ||
| ENST00000686455.1:n.1733+69_1733+73del | ||
| ENST00000686762.1:c.1370+69_1370+73del | ENSP00000509767.1:n.1370+69_1370+73del | |
| ENST00000687257.1:n.1606+69_1606+73del | ||
| ENST00000687326.1:c.*304+69_*304+73del | ENSP00000509665.1:n.*304+69_*304+73del | |
| ENST00000687505.1:n.1488+69_1488+73del | ||
| ENST00000687923.1:c.1259+69_1259+73del | ENSP00000510255.1:n.1259+69_1259+73del | |
| ENST00000687940.1:n.1816_1820del | ||
| ENST00000688269.1:n.1966+69_1966+73del | ||
| ENST00000688326.1:c.803+69_803+73del | ||
| ENST00000688444.1:n.1696+69_1696+73del | ||
| ENST00000688543.1:c.1271+69_1271+73del | ENSP00000509612.1:n.1271+69_1271+73del | |
| ENST00000688625.1:c.*948+69_*948+73del | ENSP00000509522.1:n.*948+69_*948+73del | |
| ENST00000688803.1:n.1601+69_1601+73del | ||
| ENST00000688914.1:n.356+69_356+73del | ||
| ENST00000689097.1:c.*1047+69_*1047+73del | ENSP00000509756.1:n.*1047+69_*1047+73del | |
| ENST00000689389.1:c.1193+979_1193+983del | ENSP00000510213.1:n.1193+979_1193+983del | |
| ENST00000689418.1:c.*1047+69_*1047+73del | ENSP00000509467.1:n.*1047+69_*1047+73del | |
| ENST00000689481.1:c.*1116_*1120del | ENSP00000510248.1:n.*1116_*1120del | |
| ENST00000689540.1:n.1520+69_1520+73del | ||
| ENST00000689876.1:c.1370+69_1370+73del | ENSP00000508535.1:n.1370+69_1370+73del | |
| ENST00000689914.1:c.*304+69_*304+73del | ENSP00000509847.1:n.*304+69_*304+73del | |
| ENST00000690397.1:c.1259+69_1259+73del | ENSP00000508730.1:n.1259+69_1259+73del | |
| ENST00000690460.1:c.1358+69_1358+73del | ENSP00000509106.1:n.1358+69_1358+73del | |
| ENST00000690585.1:c.262+69_262+73del | ||
| ENST00000690625.1:n.2406+69_2406+73del | ||
| ENST00000691396.1:c.*1222+69_*1222+73del | ENSP00000510712.1:n.*1222+69_*1222+73del | |
| ENST00000691724.1:c.*327+69_*327+73del | ENSP00000509255.1:n.*327+69_*327+73del | |
| ENST00000691779.1:c.*948+69_*948+73del | ENSP00000508592.1:n.*948+69_*948+73del | |
| ENST00000691888.1:c.262+69_262+73del | ||
| ENST00000691899.1:c.1370+69_1370+73del | ENSP00000508763.1:n.1370+69_1370+73del | |
| ENST00000692069.1:n.1936+69_1936+73del | ||
| ENST00000692093.1:c.1271+69_1271+73del | ENSP00000509669.1:n.1271+69_1271+73del | |
| ENST00000692311.1:n.2194+69_2194+73del | ||
| ENST00000692558.1:n.1735+69_1735+73del | ||
| ENST00000692773.1:c.*1107+69_*1107+73del | ENSP00000509055.1:n.*1107+69_*1107+73del | |
| ENST00000692830.1:c.*1115+69_*1115+73del | ENSP00000509461.1:n.*1115+69_*1115+73del | |
| ENST00000693312.1:c.1145+69_1145+73del | ENSP00000508686.1:n.1145+69_1145+73del | |
| ENST00000693664.1:c.1370+69_1370+73del | ENSP00000509614.1:n.1370+69_1370+73del | |
| ENST00000693705.1:c.*1047+69_*1047+73del | ENSP00000510697.1:n.*1047+69_*1047+73del | |
| ENST00000251849.9:c.1370+69_1370+73del MANE Select | ENSP00000251849.4:n.1370+69_1370+73del | |
| ENST00000442415.7:c.1430+69_1430+73del | ENSP00000401888.2:n.1430+69_1430+73del | |
| ENST00000251849.8:c.1370+69_1370+73del | ENSP00000251849.4:n.1370+69_1370+73del | |
| ENST00000423275.5:c.*1047+69_*1047+73del | ENSP00000401088.1:n.*1047+69_*1047+73del | |
| ENST00000432427.2:c.1007+69_1007+73del | ENSP00000398591.2:n.1007+69_1007+73del | |
| ENST00000442415.6:c.1430+69_1430+73del | ENSP00000401888.2:n.1430+69_1430+73del | |
| ENST00000460610.1:n.396_400del | ||
| ENST00000465826.5:n.727+69_727+73del | ||
| ENST00000475353.1:n.538+69_538+73del | ||
| ENST00000494557.1:n.455_459del | ||
| NM_002880.3:c.1370+69_1370+73del , LRG_413t1:c.1370+69_1370+73del | NP_002871.1:n.1370+69_1370+73del | |
| XM_005265355.1:c.1370+69_1370+73del | XP_005265412.1:n.1370+69_1370+73del | |
| XM_005265357.1:c.1271+69_1271+73del | XP_005265414.1:n.1271+69_1271+73del | |
| XM_005265358.3:c.1127+69_1127+73del | XP_005265415.1:n.1127+69_1127+73del | |
| XM_005265359.3:c.1028+69_1028+73del | XP_005265416.1:n.1028+69_1028+73del | |
| XM_005265360.1:c.1370+69_1370+73del | XP_005265417.1:n.1370+69_1370+73del | |
| XM_011533974.1:c.1370+69_1370+73del | XP_011532276.1:n.1370+69_1370+73del | |
| XM_011533975.1:c.1127+69_1127+73del | XP_011532277.1:n.1127+69_1127+73del | |
| NM_001354689.1:c.1430+69_1430+73del | NP_001341618.1:n.1430+69_1430+73del | |
| NM_001354690.1:c.1370+69_1370+73del | NP_001341619.1:n.1370+69_1370+73del | |
| NM_001354691.1:c.1127+69_1127+73del | NP_001341620.1:n.1127+69_1127+73del | |
| NM_001354692.1:c.1127+69_1127+73del | NP_001341621.1:n.1127+69_1127+73del | |
| NM_001354693.1:c.1271+69_1271+73del | NP_001341622.1:n.1271+69_1271+73del | |
| NM_001354694.1:c.1187+69_1187+73del | NP_001341623.1:n.1187+69_1187+73del | |
| NM_001354695.1:c.1028+69_1028+73del | NP_001341624.1:n.1028+69_1028+73del | |
| NR_148940.1:n.1898+69_1898+73del | ||
| NR_148941.1:n.1844+69_1844+73del | ||
| NR_148942.1:n.1783+69_1783+73del | ||
| XM_011533974.3:c.1370+69_1370+73del | XP_011532276.1:n.1370+69_1370+73del | |
| XM_017006966.1:c.1271+69_1271+73del | XP_016862455.1:n.1271+69_1271+73del | |
| NM_001354689.3:c.1430+69_1430+73del | NP_001341618.1:n.1430+69_1430+73del | |
| NM_001354690.2:c.1370+69_1370+73del | NP_001341619.1:n.1370+69_1370+73del | |
| NM_001354691.2:c.1127+69_1127+73del | NP_001341620.1:n.1127+69_1127+73del | |
| NM_001354692.2:c.1127+69_1127+73del | NP_001341621.1:n.1127+69_1127+73del | |
| NM_001354693.2:c.1271+69_1271+73del | NP_001341622.1:n.1271+69_1271+73del | |
| NM_001354694.2:c.1187+69_1187+73del | NP_001341623.1:n.1187+69_1187+73del | |
| NM_001354695.2:c.1028+69_1028+73del | NP_001341624.1:n.1028+69_1028+73del | |
| NR_148940.2:n.1814+69_1814+73del | ||
| NR_148941.2:n.1760+69_1760+73del | ||
| NR_148942.2:n.1699+69_1699+73del | ||
| NM_001354690.3:c.1370+69_1370+73del | NP_001341619.1:n.1370+69_1370+73del | |
| NM_001354691.3:c.1127+69_1127+73del | NP_001341620.1:n.1127+69_1127+73del | |
| NM_001354692.3:c.1127+69_1127+73del | NP_001341621.1:n.1127+69_1127+73del | |
| NM_001354693.3:c.1271+69_1271+73del | NP_001341622.1:n.1271+69_1271+73del | |
| NM_001354694.3:c.1187+69_1187+73del | NP_001341623.1:n.1187+69_1187+73del | |
| NM_001354695.3:c.1028+69_1028+73del | NP_001341624.1:n.1028+69_1028+73del | |
| NM_002880.4:c.1370+69_1370+73del MANE Select | NP_002871.1:n.1370+69_1370+73del | |
| NR_148940.3:n.1814+69_1814+73del | ||
| NR_148941.3:n.1760+69_1760+73del | ||
| NR_148942.3:n.1699+69_1699+73del |