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.44620397_44620402delinsATGTTC , CM000682.2:g.44620397_44620402delinsATGTTC | GRCh38 |
| NC_000020.10:g.43249038_43249043delinsATGTTC , CM000682.1:g.43249038_43249043delinsATGTTC | GRCh37 |
| NC_000020.9:g.42682452_42682457delinsATGTTC | NCBI36 |
| NG_007385.1:g.36334_36339delinsGAACAT , LRG_16:g.36334_36339delinsGAACAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1143-1_1147delinsGAACAT (ADA) | ||
| ENST00000536076.2:c.823-1_827delinsGAACAT (ADA) | ||
| ENST00000536532.6:c.*119-1_*123delinsGAACAT (ADA) | ||
| ENST00000537820.2:c.904-1_908delinsGAACAT (ADA) | ||
| ENST00000539235.6:c.*360-1_*364delinsGAACAT (ADA) | ||
| ENST00000695889.1:c.451-1_455delinsGAACAT (ADA) | ||
| ENST00000695890.1:n.5086_5091delinsGAACAT (ADA) | ||
| ENST00000695891.1:c.516-1_520delinsGAACAT (ADA) | ||
| ENST00000695927.1:c.1054-1_1058delinsGAACAT (ADA) | ||
| ENST00000695949.1:c.901-1_905delinsGAACAT (ADA) | ||
| ENST00000695956.1:c.131-1_135delinsGAACAT (ADA) | ||
| ENST00000695957.1:c.*467-1_*471delinsGAACAT (ADA) | ||
| ENST00000695991.1:c.514-1_518delinsGAACAT (ADA) | ||
| ENST00000695992.1:c.*119-1_*123delinsGAACAT (ADA) | ||
| ENST00000695993.1:c.976-1_980delinsGAACAT (ADA) | ||
| ENST00000695994.1:c.*119-1_*123delinsGAACAT (ADA) | ||
| ENST00000695995.1:c.586-1_590delinsGAACAT (ADA) | ||
| ENST00000695996.1:n.1058-1_1062delinsGAACAT (ADA) | ||
| ENST00000696003.1:n.2760-1_2764delinsGAACAT (ADA) | ||
| ENST00000696004.1:n.1759_1764delinsGAACAT (ADA) | ||
| ENST00000696005.1:c.426-1_430delinsGAACAT (ADA) | ||
| ENST00000696006.1:c.*119-1_*123delinsGAACAT (ADA) | ||
| ENST00000696007.1:c.903-1_907delinsGAACAT (ADA) | ||
| ENST00000696008.1:n.3330-1_3334delinsGAACAT (ADA) | ||
| ENST00000696017.1:c.973-1_977delinsGAACAT (ADA) | ||
| ENST00000696034.1:c.*119-1_*123delinsGAACAT (ADA) | ||
| ENST00000696035.1:n.1162-1_1166delinsGAACAT (ADA) | ||
| ENST00000696036.1:n.1677-1_1681delinsGAACAT (ADA) | ||
| ENST00000696037.1:n.2653-1_2657delinsGAACAT (ADA) | ||
| ENST00000696038.1:c.*733-1_*737delinsGAACAT (ADA) | ||
| ENST00000696039.1:n.1340-1_1344delinsGAACAT (ADA) | ||
| ENST00000696058.1:c.973-1_977delinsGAACAT (ADA) | ||
| ENST00000696059.1:c.*921-1_*925delinsGAACAT (ADA) | ||
| ENST00000696060.1:c.1045-1_1049delinsGAACAT (ADA) | ||
| ENST00000696061.1:c.973-1_977delinsGAACAT (ADA) | ||
| ENST00000696062.1:c.1039-1_1043delinsGAACAT (ADA) | ||
| ENST00000696063.1:c.1051-1_1055delinsGAACAT (ADA) | ||
| ENST00000696064.1:c.823-1_827delinsGAACAT (ADA) | ||
| ENST00000696065.1:c.298-1_302delinsGAACAT (ADA) | ||
| ENST00000696072.1:n.331-1_335delinsGAACAT (ADA) | ||
| ENST00000696073.1:n.1287-1_1291delinsGAACAT (ADA) | ||
| ENST00000696074.1:n.527-1_531delinsGAACAT (ADA) | ||
| ENST00000696075.1:c.*946-1_*950delinsGAACAT (ADA) | ||
| ENST00000696076.1:c.1045-1_1049delinsGAACAT (ADA) | ||
| ENST00000696077.1:c.970-1_974delinsGAACAT (ADA) | ||
| ENST00000696078.1:c.973-1_977delinsGAACAT (ADA) | ||
| ENST00000696079.1:c.973-1_977delinsGAACAT (ADA) | ||
| ENST00000696080.1:c.976-1_980delinsGAACAT (ADA) | ||
| ENST00000696081.1:n.1095-1_1099delinsGAACAT (ADA) | ||
| ENST00000696082.1:c.1051-1_1055delinsGAACAT (ADA) | ||
| ENST00000696083.1:n.1933-1_1937delinsGAACAT (ADA) | ||
| ENST00000696084.1:n.1153-1_1157delinsGAACAT (ADA) | ||
| ENST00000696104.1:c.*45-1_*49delinsGAACAT (ADA) | ||
| ENST00000372874.9:c.976-1_980delinsGAACAT (ADA) | ||
| ENST00000372874.8:c.976-1_980delinsGAACAT (ADA) | ||
| ENST00000372887.5:c.152-3536_152-3531delinsATGTTC (PKIG) | ENSP00000361978.1:n.152-3536_152-3531deli... | |
| ENST00000464097.5:n.1341_1346delinsGAACAT (ADA) | ||
| ENST00000492931.5:n.1136-1_1140delinsGAACAT (ADA) | ||
| ENST00000536532.5:c.*119-1_*123delinsGAACAT (ADA) | ||
| ENST00000537820.1:c.904-1_908delinsGAACAT (ADA) | ||
| ENST00000539235.5:c.*360-1_*364delinsGAACAT (ADA) | ||
| NM_000022.2:c.976-1_980delinsGAACAT , LRG_16t1:c.976-1_980delinsGAACAT (ADA) | ||
| XM_005260236.2:c.904-1_908delinsGAACAT (ADA) | ||
| XM_011528478.1:c.571-1_575delinsGAACAT (ADA) | ||
| XM_011528479.1:c.571-1_575delinsGAACAT (ADA) | ||
| XR_244129.1:n.965-1_969delinsGAACAT (ADA) | ||
| NM_000022.3:c.976-1_980delinsGAACAT (ADA) | ||
| NM_001322050.1:c.571-1_575delinsGAACAT (ADA) | ||
| NM_001322051.1:c.904-1_908delinsGAACAT (ADA) | ||
| NR_136160.1:n.1062-1_1066delinsGAACAT (ADA) | ||
| NM_000022.4:c.976-1_980delinsGAACAT (ADA) | ||
| NM_001322050.2:c.571-1_575delinsGAACAT (ADA) | ||
| NM_001322051.2:c.904-1_908delinsGAACAT (ADA) | ||
| NR_136160.2:n.1003-1_1007delinsGAACAT (ADA) |