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_000020.11:g.44624331_44624352delinsATGCTGGTCCCA , CM000682.2:g.44624331_44624352delinsATGCTGGTCCCA | GRCh38 |
| NC_000020.10:g.43252972_43252993delinsATGCTGGTCCCA , CM000682.1:g.43252972_43252993delinsATGCTGGTCCCA | GRCh37 |
| NC_000020.9:g.42686386_42686407delinsATGCTGGTCCCA | NCBI36 |
| NG_007385.1:g.32384_32405delinsTGGGACCAGCAT , LRG_16:g.32384_32405delinsTGGGACCAGCAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.570-23_570-2delinsTGGGACCAGCAT | ||
| ENST00000536076.2:c.326-23_326-2delinsTGGGACCAGCAT | ENSP00000512234.1:n.326-23_326-2delinsTGGGACCAGCAT | |
| ENST00000536532.6:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000440946.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000537820.2:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000441818.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000539235.6:c.219-1274_219-1253delinsTGGGACCAGCAT | ENSP00000446464.1:n.219-1274_219-1253delinsTGGGACCAGCAT | |
| ENST00000695889.1:c.219-1422_219-1401delinsTGGGACCAGCAT | ENSP00000512240.1:n.219-1422_219-1401delinsTGGGACCAGCAT | |
| ENST00000695890.1:n.2282-23_2282-2delinsTGGGACCAGCAT | ||
| ENST00000695891.1:c.219-1422_219-1401delinsTGGGACCAGCAT | ENSP00000512241.1:n.219-1422_219-1401delinsTGGGACCAGCAT | |
| ENST00000695927.1:c.557-23_557-2delinsTGGGACCAGCAT | ENSP00000512270.1:n.557-23_557-2delinsTGGGACCAGCAT | |
| ENST00000695949.1:c.476-23_476-2delinsTGGGACCAGCAT | ENSP00000512281.1:n.476-23_476-2delinsTGGGACCAGCAT | |
| ENST00000695957.1:c.363-23_363-2delinsTGGGACCAGCAT | ENSP00000512286.1:n.363-23_363-2delinsTGGGACCAGCAT | |
| ENST00000695991.1:c.217-1422_217-1401delinsTGGGACCAGCAT | ENSP00000512314.1:n.217-1422_217-1401delinsTGGGACCAGCAT | |
| ENST00000695992.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512315.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000695993.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512316.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000695994.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512317.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000695995.1:c.217-1274_217-1253delinsTGGGACCAGCAT | ENSP00000512318.1:n.217-1274_217-1253delinsTGGGACCAGCAT | |
| ENST00000695996.1:n.550-23_550-2delinsTGGGACCAGCAT | ||
| ENST00000695997.1:n.434-23_434-2delinsTGGGACCAGCAT | ||
| ENST00000696003.1:n.571-23_571-2delinsTGGGACCAGCAT | ||
| ENST00000696004.1:n.571-23_571-2delinsTGGGACCAGCAT | ||
| ENST00000696006.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512325.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000696007.1:c.330-23_330-2delinsTGGGACCAGCAT | ENSP00000512326.1:n.330-23_330-2delinsTGGGACCAGCAT | |
| ENST00000696008.1:n.1611_1632delinsTGGGACCAGCAT | ||
| ENST00000696009.1:n.1806_1827delinsTGGGACCAGCAT | ||
| ENST00000696017.1:c.476-23_476-2delinsTGGGACCAGCAT | ENSP00000512333.1:n.476-23_476-2delinsTGGGACCAGCAT | |
| ENST00000696034.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512343.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000696035.1:n.589-23_589-2delinsTGGGACCAGCAT | ||
| ENST00000696036.1:n.1169-23_1169-2delinsTGGGACCAGCAT | ||
| ENST00000696037.1:n.2156-23_2156-2delinsTGGGACCAGCAT | ||
| ENST00000696038.1:c.*225-23_*225-2delinsTGGGACCAGCAT | ENSP00000512344.1:n.*225-23_*225-2delinsTGGGACCAGCAT | |
| ENST00000696039.1:n.767-23_767-2delinsTGGGACCAGCAT | ||
| ENST00000696058.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512361.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000696059.1:c.*424-23_*424-2delinsTGGGACCAGCAT | ENSP00000512362.1:n.*424-23_*424-2delinsTGGGACCAGCAT | |
| ENST00000696060.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512363.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000696061.1:c.476-23_476-2delinsTGGGACCAGCAT | ENSP00000512364.1:n.476-23_476-2delinsTGGGACCAGCAT | |
| ENST00000696062.1:c.542-23_542-2delinsTGGGACCAGCAT | ENSP00000512365.1:n.542-23_542-2delinsTGGGACCAGCAT | |
| ENST00000696063.1:c.554-23_554-2delinsTGGGACCAGCAT | ENSP00000512366.1:n.554-23_554-2delinsTGGGACCAGCAT | |
| ENST00000696064.1:c.326-23_326-2delinsTGGGACCAGCAT | ENSP00000512367.1:n.326-23_326-2delinsTGGGACCAGCAT | |
| ENST00000696065.1:c.66-1422_66-1401delinsTGGGACCAGCAT | ENSP00000512368.1:n.66-1422_66-1401delinsTGGGACCAGCAT | |
| ENST00000696074.1:n.72_93delinsTGGGACCAGCAT | ||
| ENST00000696075.1:c.*449-23_*449-2delinsTGGGACCAGCAT | ENSP00000512374.1:n.*449-23_*449-2delinsTGGGACCAGCAT | |
| ENST00000696076.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512375.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000696077.1:c.476-23_476-2delinsTGGGACCAGCAT | ENSP00000512376.1:n.476-23_476-2delinsTGGGACCAGCAT | |
| ENST00000696078.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512377.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000696079.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512378.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000696080.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000512379.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000696081.1:n.575_596delinsTGGGACCAGCAT | ||
| ENST00000696082.1:c.557-23_557-2delinsTGGGACCAGCAT | ENSP00000512380.1:n.557-23_557-2delinsTGGGACCAGCAT | |
| ENST00000696083.1:n.1337_1358delinsTGGGACCAGCAT | ||
| ENST00000696084.1:n.580-23_580-2delinsTGGGACCAGCAT | ||
| ENST00000696104.1:c.363-1422_363-1401delinsTGGGACCAGCAT | ENSP00000512399.1:n.363-1422_363-1401delinsTGGGACCAGCAT | |
| ENST00000696105.1:c.*20-23_*20-2delinsTGGGACCAGCAT | ENSP00000512400.1:n.*20-23_*20-2delinsTGGGACCAGCAT | |
| ENST00000372874.9:c.479-23_479-2delinsTGGGACCAGCAT MANE Select | ENSP00000361965.4:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000372874.8:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000361965.4:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000464097.5:n.153-23_153-2delinsTGGGACCAGCAT | ||
| ENST00000492931.5:n.563-23_563-2delinsTGGGACCAGCAT | ||
| ENST00000536532.5:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000440946.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000537820.1:c.479-23_479-2delinsTGGGACCAGCAT | ENSP00000441818.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| ENST00000539235.5:c.219-1274_219-1253delinsTGGGACCAGCAT | ENSP00000446464.1:n.219-1274_219-1253delinsTGGGACCAGCAT | |
| NM_000022.2:c.479-23_479-2delinsTGGGACCAGCAT , LRG_16t1:c.479-23_479-2delinsTGGGACCAGCAT | NP_000013.2:n.479-23_479-2delinsTGGGACCAGCAT | |
| XM_005260236.2:c.479-23_479-2delinsTGGGACCAGCAT | XP_005260293.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| XM_011528478.1:c.74-23_74-2delinsTGGGACCAGCAT | XP_011526780.1:n.74-23_74-2delinsTGGGACCAGCAT | |
| XM_011528479.1:c.74-23_74-2delinsTGGGACCAGCAT | XP_011526781.1:n.74-23_74-2delinsTGGGACCAGCAT | |
| XR_244129.1:n.533-23_533-2delinsTGGGACCAGCAT | ||
| NM_000022.3:c.479-23_479-2delinsTGGGACCAGCAT | NP_000013.2:n.479-23_479-2delinsTGGGACCAGCAT | |
| NM_001322050.1:c.74-23_74-2delinsTGGGACCAGCAT | NP_001308979.1:n.74-23_74-2delinsTGGGACCAGCAT | |
| NM_001322051.1:c.479-23_479-2delinsTGGGACCAGCAT | NP_001308980.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| NR_136160.1:n.630-23_630-2delinsTGGGACCAGCAT | ||
| NM_000022.4:c.479-23_479-2delinsTGGGACCAGCAT MANE Select | NP_000013.2:n.479-23_479-2delinsTGGGACCAGCAT | |
| NM_001322050.2:c.74-23_74-2delinsTGGGACCAGCAT | NP_001308979.1:n.74-23_74-2delinsTGGGACCAGCAT | |
| NM_001322051.2:c.479-23_479-2delinsTGGGACCAGCAT | NP_001308980.1:n.479-23_479-2delinsTGGGACCAGCAT | |
| NR_136160.2:n.571-23_571-2delinsTGGGACCAGCAT |