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.44622903_44622904delinsGC , CM000682.2:g.44622903_44622904delinsGC | GRCh38 |
| NC_000020.10:g.43251544_43251545delinsGC , CM000682.1:g.43251544_43251545delinsGC | GRCh37 |
| NC_000020.9:g.42684958_42684959delinsGC | NCBI36 |
| NG_007385.1:g.33832_33833delinsGC , LRG_16:g.33832_33833delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.872_873delinsGC (ADA) | ||
| ENST00000536076.2:c.552_553delinsGC (ADA) | ENSP00000512234.1:p.Arg184= | |
| ENST00000536532.6:c.705_706delinsGC (ADA) | ENSP00000440946.1:p.Arg235= | |
| ENST00000537820.2:c.633_634delinsGC (ADA) | ENSP00000441818.1:p.Arg211= | |
| ENST00000539235.6:c.*89_*90delinsGC (ADA) | ENSP00000446464.1:n.*89_*90delinsGC | |
| ENST00000695889.1:c.245_246delinsGC (ADA) | ENSP00000512240.1:p.Gly82= | |
| ENST00000695890.1:n.2584_2585delinsGC (ADA) | ||
| ENST00000695891.1:c.245_246delinsGC (ADA) | ENSP00000512241.1:p.Gly82= | |
| ENST00000695927.1:c.783_784delinsGC (ADA) | ENSP00000512270.1:p.Arg261= | |
| ENST00000695949.1:c.630_631delinsGC (ADA) | ENSP00000512281.1:p.Arg210= | |
| ENST00000695957.1:c.*196_*197delinsGC (ADA) | ENSP00000512286.1:n.*196_*197delinsGC | |
| ENST00000695991.1:c.243_244delinsGC (ADA) | ENSP00000512314.1:p.Arg81= | |
| ENST00000695992.1:c.705_706delinsGC (ADA) | ENSP00000512315.1:p.Arg235= | |
| ENST00000695993.1:c.705_706delinsGC (ADA) | ENSP00000512316.1:p.Arg235= | |
| ENST00000695994.1:c.678_679delinsGC (ADA) | ENSP00000512317.1:p.Arg226= | |
| ENST00000695995.1:c.315_316delinsGC (ADA) | ENSP00000512318.1:p.Arg105= | |
| ENST00000695996.1:n.852_853delinsGC (ADA) | ||
| ENST00000696003.1:n.873_874delinsGC (ADA) | ||
| ENST00000696004.1:n.873_874delinsGC (ADA) | ||
| ENST00000696005.1:c.155_156delinsGC (ADA) | ||
| ENST00000696006.1:c.633_634delinsGC (ADA) | ENSP00000512325.1:p.Arg211= | |
| ENST00000696007.1:c.632_633delinsGC (ADA) | ENSP00000512326.1:n.632_633delinsGC | |
| ENST00000696008.1:n.3059_3060delinsGC (ADA) | ||
| ENST00000696017.1:c.702_703delinsGC (ADA) | ENSP00000512333.1:p.Arg234= | |
| ENST00000696034.1:c.705_706delinsGC (ADA) | ENSP00000512343.1:p.Arg235= | |
| ENST00000696035.1:n.891_892delinsGC (ADA) | ||
| ENST00000696036.1:n.1471_1472delinsGC (ADA) | ||
| ENST00000696037.1:n.2382_2383delinsGC (ADA) | ||
| ENST00000696038.1:c.*527_*528delinsGC (ADA) | ENSP00000512344.1:n.*527_*528delinsGC | |
| ENST00000696039.1:n.1069_1070delinsGC (ADA) | ||
| ENST00000696058.1:c.702_703delinsGC (ADA) | ENSP00000512361.1:p.Arg234= | |
| ENST00000696059.1:c.*650_*651delinsGC (ADA) | ENSP00000512362.1:n.*650_*651delinsGC | |
| ENST00000696060.1:c.774_775delinsGC (ADA) | ENSP00000512363.1:p.Arg258= | |
| ENST00000696061.1:c.702_703delinsGC (ADA) | ENSP00000512364.1:p.Arg234= | |
| ENST00000696062.1:c.768_769delinsGC (ADA) | ENSP00000512365.1:p.Arg256= | |
| ENST00000696063.1:c.780_781delinsGC (ADA) | ENSP00000512366.1:p.Arg260= | |
| ENST00000696064.1:c.552_553delinsGC (ADA) | ENSP00000512367.1:p.Arg184= | |
| ENST00000696065.1:c.92_93delinsGC (ADA) | ENSP00000512368.1:p.Gly31= | |
| ENST00000696073.1:n.1016_1017delinsGC (ADA) | ||
| ENST00000696074.1:n.321_322delinsGC (ADA) | ||
| ENST00000696075.1:c.*675_*676delinsGC (ADA) | ENSP00000512374.1:n.*675_*676delinsGC | |
| ENST00000696076.1:c.774_775delinsGC (ADA) | ENSP00000512375.1:p.Arg258= | |
| ENST00000696077.1:c.699_700delinsGC (ADA) | ENSP00000512376.1:p.Arg233= | |
| ENST00000696078.1:c.702_703delinsGC (ADA) | ENSP00000512377.1:p.Arg234= | |
| ENST00000696079.1:c.702_703delinsGC (ADA) | ENSP00000512378.1:p.Arg234= | |
| ENST00000696080.1:c.705_706delinsGC (ADA) | ENSP00000512379.1:p.Arg235= | |
| ENST00000696081.1:n.824_825delinsGC (ADA) | ||
| ENST00000696082.1:c.780_781delinsGC (ADA) | ENSP00000512380.1:p.Arg260= | |
| ENST00000696083.1:n.1662_1663delinsGC (ADA) | ||
| ENST00000696084.1:n.882_883delinsGC (ADA) | ||
| ENST00000696104.1:c.389_390delinsGC (ADA) | ENSP00000512399.1:p.Gly130= | |
| ENST00000372874.9:c.705_706delinsGC (ADA) MANE Select | ENSP00000361965.4:p.Arg235= | |
| ENST00000372874.8:c.705_706delinsGC (ADA) | ENSP00000361965.4:p.Arg235= | |
| ENST00000372887.5:c.152-1030_152-1029delinsGC (PKIG) | ENSP00000361978.1:n.152-1030_152-1029delinsGC | |
| ENST00000464097.5:n.455_456delinsGC (ADA) | ||
| ENST00000492931.5:n.865_866delinsGC (ADA) | ||
| ENST00000536532.5:c.705_706delinsGC (ADA) | ENSP00000440946.1:p.Arg235= | |
| ENST00000537820.1:c.633_634delinsGC (ADA) | ENSP00000441818.1:p.Arg211= | |
| ENST00000539235.5:c.*89_*90delinsGC (ADA) | ENSP00000446464.1:n.*89_*90delinsGC | |
| NM_000022.2:c.705_706delinsGC , LRG_16t1:c.705_706delinsGC (ADA) | NP_000013.2:p.Arg235= | |
| XM_005260236.2:c.633_634delinsGC (ADA) | XP_005260293.1:p.Arg211= | |
| XM_011528478.1:c.300_301delinsGC (ADA) | XP_011526780.1:p.Arg100= | |
| XM_011528479.1:c.300_301delinsGC (ADA) | XP_011526781.1:p.Arg100= | |
| XR_244129.1:n.759_760delinsGC (ADA) | ||
| NM_000022.3:c.705_706delinsGC (ADA) | NP_000013.2:p.Arg235= | |
| NM_001322050.1:c.300_301delinsGC (ADA) | NP_001308979.1:p.Arg100= | |
| NM_001322051.1:c.633_634delinsGC (ADA) | NP_001308980.1:p.Arg211= | |
| NR_136160.1:n.856_857delinsGC (ADA) | ||
| NM_000022.4:c.705_706delinsGC (ADA) MANE Select | NP_000013.2:p.Arg235= | |
| NM_001322050.2:c.300_301delinsGC (ADA) | NP_001308979.1:p.Arg100= | |
| NM_001322051.2:c.633_634delinsGC (ADA) | NP_001308980.1:p.Arg211= | |
| NR_136160.2:n.797_798delinsGC (ADA) |