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_000007.14:g.94598814_94598818delinsTTGTC , CM000669.2:g.94598814_94598818delinsTTGTC | GRCh38 |
| NC_000007.13:g.94228126_94228130delinsTTGTC , CM000669.1:g.94228126_94228130delinsTTGTC | GRCh37 |
| NC_000007.12:g.94066062_94066066delinsTTGTC | NCBI36 |
| NG_008893.1:g.62392_62396delinsGACAA | |
| NG_008893.2:g.62392_62396delinsGACAA | |
| NG_008893.3:g.62755_62759delinsGACAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415788.3:c.1318_1322delinsGACAA (SGCE) | ENSP00000405313.2:p.Asp440= | |
| ENST00000428696.7:c.1162_1166delinsGACAA (SGCE) | ENSP00000397536.3:p.Asp388= | |
| ENST00000437425.7:c.1087_1091delinsGACAA (SGCE) | ENSP00000394061.2:p.Asp363= | |
| ENST00000445866.7:c.1210_1214delinsGACAA (SGCE) | ENSP00000398930.2:p.Asp404= | |
| ENST00000447873.6:c.1183_1187delinsGACAA (SGCE) | ENSP00000388734.1:p.Asp395= | |
| ENST00000642291.1:c.1145_1149delinsGACAA (SGCE) | ||
| ENST00000642353.1:n.1181_1185delinsGACAA (SGCE) | ||
| ENST00000642394.1:c.1060_1064delinsGACAA (SGCE) | ENSP00000493751.1:p.Asp354= | |
| ENST00000642441.1:c.1264_1268delinsGACAA (SGCE) | ENSP00000495994.1:p.Asp422= | |
| ENST00000642497.1:n.1956_1960delinsGACAA (SGCE) | ||
| ENST00000642564.1:n.1310_1314delinsGACAA (SGCE) | ||
| ENST00000642638.1:c.*1248_*1252delinsGACAA (SGCE) | ENSP00000495555.1:n.*1248_*1252delinsGACA... | |
| ENST00000642707.1:c.1291_1295delinsGACAA (SGCE) | ENSP00000495270.1:p.Asp431= | |
| ENST00000642754.1:n.6082_6086delinsGACAA (SGCE) | ||
| ENST00000642759.1:n.1272_1276delinsGACAA (SGCE) | ||
| ENST00000642802.1:n.1005_1009delinsGACAA (SGCE) | ||
| ENST00000642904.1:n.1271_1275delinsGACAA (SGCE) | ||
| ENST00000642933.1:c.1183_1187delinsGACAA (SGCE) | ENSP00000496237.1:p.Asp395= | |
| ENST00000643020.1:c.1136_1140delinsGACAA (SGCE) | ||
| ENST00000643041.1:c.*171_*175delinsGACAA (SGCE) | ENSP00000495311.1:n.*171_*175delinsGACAA | |
| ENST00000643128.1:c.1210_1214delinsGACAA (SGCE) | ENSP00000496678.1:p.Asp404= | |
| ENST00000643160.1:c.441_445delinsGACAA (SGCE) | ||
| ENST00000643193.1:c.1183_1187delinsGACAA (SGCE) | ENSP00000496559.1:p.Asp395= | |
| ENST00000643206.1:c.*791_*795delinsGACAA (SGCE) | ENSP00000496172.1:n.*791_*795delinsGACAA | |
| ENST00000643272.1:c.1291_1295delinsGACAA (SGCE) | ENSP00000494488.1:p.Asp431= | |
| ENST00000643324.1:n.2101_2105delinsGACAA (SGCE) | ||
| ENST00000643491.1:n.1111_1115delinsGACAA (SGCE) | ||
| ENST00000643568.1:c.864_868delinsGACAA (SGCE) | ||
| ENST00000643605.1:c.*1170_*1174delinsGACAA (SGCE) | ENSP00000496480.1:n.*1170_*1174delinsGACA... | |
| ENST00000643610.1:c.1210_1214delinsGACAA (SGCE) | ENSP00000494350.1:p.Asp404= | |
| ENST00000643714.1:n.1251_1255delinsGACAA (SGCE) | ||
| ENST00000643903.1:c.1183_1187delinsGACAA (SGCE) | ENSP00000495165.1:p.Asp395= | |
| ENST00000643991.1:c.1092_1096delinsGACAA (SGCE) | ||
| ENST00000644087.1:c.*1260_*1264delinsGACAA (SGCE) | ENSP00000495249.1:n.*1260_*1264delinsGACA... | |
| ENST00000644116.1:c.1183_1187delinsGACAA (SGCE) | ENSP00000495276.1:p.Asp395= | |
| ENST00000644122.1:c.1291_1295delinsGACAA (SGCE) | ENSP00000495236.1:p.Asp431= | |
| ENST00000644268.1:n.1803_1807delinsGACAA (SGCE) | ||
| ENST00000644373.1:n.2219_2223delinsGACAA (SGCE) | ||
| ENST00000644375.1:c.1249_1253delinsGACAA (SGCE) | ENSP00000494315.1:p.Asp417= | |
| ENST00000644533.1:n.1965_1969delinsGACAA (SGCE) | ||
| ENST00000644551.1:c.1291_1295delinsGACAA (SGCE) | ENSP00000493981.1:p.Asp431= | |
| ENST00000644609.1:c.1183_1187delinsGACAA (SGCE) | ENSP00000496045.1:p.Asp395= | |
| ENST00000644639.1:c.*844_*848delinsGACAA (SGCE) | ENSP00000496391.1:n.*844_*848delinsGACAA | |
| ENST00000644658.1:c.562_566delinsGACAA (SGCE) | ||
| ENST00000644674.1:n.1111_1115delinsGACAA (SGCE) | ||
| ENST00000644681.1:c.910_914delinsGACAA (SGCE) | ENSP00000496455.1:p.Asp304= | |
| ENST00000644682.1:c.1247_1251delinsGACAA (SGCE) | ||
| ENST00000644816.1:c.1210_1214delinsGACAA (SGCE) | ENSP00000494898.1:p.Asp404= | |
| ENST00000645101.1:c.1372_1376delinsGACAA (SGCE) | ENSP00000494975.1:p.Asp458= | |
| ENST00000645109.1:c.1318_1322delinsGACAA (SGCE) | ENSP00000495931.1:p.Asp440= | |
| ENST00000645262.1:c.1060_1064delinsGACAA (SGCE) | ENSP00000494164.1:p.Asp354= | |
| ENST00000645445.1:c.1157_1161delinsGACAA (SGCE) | ||
| ENST00000645535.1:c.910_914delinsGACAA (SGCE) | ENSP00000493984.1:p.Asp304= | |
| ENST00000645579.1:n.2103_2107delinsGACAA (SGCE) | ||
| ENST00000645624.1:n.746_750delinsGACAA (SGCE) | ||
| ENST00000645665.1:n.429_433delinsGACAA (SGCE) | ||
| ENST00000645725.1:c.1264_1268delinsGACAA (SGCE) | ENSP00000495480.1:p.Asp422= | |
| ENST00000645804.1:c.56+879_56+883delinsGACAA (SGCE) | ENSP00000494688.1:n.56+879_56+883delinsGA... | |
| ENST00000646098.1:c.1186_1190delinsGACAA (SGCE) | ENSP00000495591.1:p.Asp396= | |
| ENST00000646119.1:c.1184_1188delinsGACAA (SGCE) | ||
| ENST00000646137.1:c.1183_1187delinsGACAA (SGCE) | ENSP00000495199.1:p.Asp395= | |
| ENST00000646265.1:c.1272_1276delinsGACAA (SGCE) | ||
| ENST00000646301.1:c.1156_1160delinsGACAA (SGCE) | ||
| ENST00000646434.1:c.1432_1436delinsGACAA (SGCE) | ||
| ENST00000646466.1:c.*1113_*1117delinsGACAA (SGCE) | ENSP00000493511.1:n.*1113_*1117delinsGACA... | |
| ENST00000646489.1:c.1318_1322delinsGACAA (SGCE) | ENSP00000496268.1:p.Asp440= | |
| ENST00000646559.1:c.*1140_*1144delinsGACAA (SGCE) | ENSP00000495838.1:n.*1140_*1144delinsGACA... | |
| ENST00000646600.1:c.*1113_*1117delinsGACAA (SGCE) | ENSP00000494041.1:n.*1113_*1117delinsGACA... | |
| ENST00000646879.1:c.1183_1187delinsGACAA (SGCE) | ENSP00000495209.1:p.Asp395= | |
| ENST00000646910.1:n.1243_1247delinsGACAA (SGCE) | ||
| ENST00000646943.1:c.1210_1214delinsGACAA (SGCE) | ENSP00000494666.1:p.Asp404= | |
| ENST00000647018.1:c.1318_1322delinsGACAA (SGCE) | ENSP00000493722.1:p.Asp440= | |
| ENST00000647031.1:n.3797_3801delinsGACAA (SGCE) | ||
| ENST00000647048.1:c.1007_1011delinsGACAA (SGCE) | ||
| ENST00000647096.1:c.1318_1322delinsGACAA (SGCE) | ENSP00000494192.1:p.Asp440= | |
| ENST00000647110.1:c.1189_1193delinsGACAA (SGCE) | ENSP00000494738.1:p.Asp397= | |
| ENST00000647334.1:c.1289_1293delinsGACAA (SGCE) | ||
| ENST00000647351.1:c.1291_1295delinsGACAA (SGCE) | ENSP00000494556.1:p.Asp431= | |
| ENST00000647379.1:n.423_427delinsGACAA (SGCE) | ||
| ENST00000647533.1:n.2831_2835delinsGACAA (SGCE) | ||
| ENST00000648936.2:c.1210_1214delinsGACAA (SGCE) MANE Select | ENSP00000497130.1:p.Asp404= | |
| ENST00000265735.11:c.1210_1214delinsGACAA (SGCE) | ENSP00000265735.6:p.Asp404= | |
| ENST00000415788.2:c.1318_1322delinsGACAA (SGCE) | ENSP00000405313.2:p.Asp440= | |
| ENST00000428696.6:c.1183_1187delinsGACAA (SGCE) | ENSP00000397536.2:p.Asp395= | |
| ENST00000437425.6:c.1087_1091delinsGACAA (SGCE) | ENSP00000394061.2:p.Asp363= | |
| ENST00000445866.6:c.1210_1214delinsGACAA (SGCE) | ENSP00000398930.2:p.Asp404= | |
| ENST00000447873.5:c.1183_1187delinsGACAA (SGCE) | ENSP00000388734.1:p.Asp395= | |
| ENST00000472326.2:n.320_324delinsGACAA (SGCE) | ||
| ENST00000522045.5:c.122+879_122+883delinsGACAA (SGCE) | ENSP00000431080.1:n.122+879_122+883delins... | |
| NM_001099400.1:c.1183_1187delinsGACAA (SGCE) | NP_001092870.1:p.Asp395= | |
| NM_001099401.1:c.1210_1214delinsGACAA (SGCE) | NP_001092871.1:p.Asp404= | |
| NM_001301139.1:c.1087_1091delinsGACAA (SGCE) | NP_001288068.1:p.Asp363= | |
| NM_003919.2:c.1210_1214delinsGACAA (SGCE) | NP_003910.1:p.Asp404= | |
| XM_005250675.3:c.1318_1322delinsGACAA (SGCE) | XP_005250732.1:p.Asp440= | |
| XM_005250677.3:c.1291_1295delinsGACAA (SGCE) | XP_005250734.1:p.Asp431= | |
| XM_011516495.1:c.2128-32502_2128-32498delinsTTGTC (CASD1) | XP_011514797.1:n.2128-32502_2128-32498del... | |
| XM_011516663.1:c.1318_1322delinsGACAA (SGCE) | XP_011514965.1:p.Asp440= | |
| XM_011516664.1:c.1291_1295delinsGACAA (SGCE) | XP_011514966.1:p.Asp431= | |
| XM_011516665.1:c.1210_1214delinsGACAA (SGCE) | XP_011514967.1:p.Asp404= | |
| XM_011516666.1:c.1183_1187delinsGACAA (SGCE) | XP_011514968.1:p.Asp395= | |
| XM_011516667.1:c.1123_1127delinsGACAA (SGCE) | XP_011514969.1:p.Asp375= | |
| XM_011516668.1:c.1087_1091delinsGACAA (SGCE) | XP_011514970.1:p.Asp363= | |
| XM_011516669.1:c.937_941delinsGACAA (SGCE) | XP_011514971.1:p.Asp313= | |
| NM_001346713.1:c.1318_1322delinsGACAA (SGCE) | NP_001333642.1:p.Asp440= | |
| NM_001346715.1:c.1291_1295delinsGACAA (SGCE) | NP_001333644.1:p.Asp431= | |
| NM_001346717.1:c.1183_1187delinsGACAA (SGCE) | NP_001333646.1:p.Asp395= | |
| NM_001346719.1:c.1123_1127delinsGACAA (SGCE) | NP_001333648.1:p.Asp375= | |
| NM_001346720.1:c.937_941delinsGACAA (SGCE) | NP_001333649.1:p.Asp313= | |
| NM_001362807.1:c.1096_1100delinsGACAA (SGCE) | NP_001349736.1:p.Asp366= | |
| NM_001362808.1:c.910_914delinsGACAA (SGCE) | NP_001349737.1:p.Asp304= | |
| NM_001362809.1:c.1060_1064delinsGACAA (SGCE) | NP_001349738.1:p.Asp354= | |
| XM_011516495.2:c.2128-32502_2128-32498delinsTTGTC (CASD1) | XP_011514797.1:n.2128-32502_2128-32498del... | |
| XM_011516663.2:c.1318_1322delinsGACAA (SGCE) | XP_011514965.1:p.Asp440= | |
| XM_011516664.2:c.1291_1295delinsGACAA (SGCE) | XP_011514966.1:p.Asp431= | |
| XM_011516665.3:c.1210_1214delinsGACAA (SGCE) | XP_011514967.1:p.Asp404= | |
| XM_011516666.3:c.1183_1187delinsGACAA (SGCE) | XP_011514968.1:p.Asp395= | |
| XM_011516667.2:c.1123_1127delinsGACAA (SGCE) | XP_011514969.1:p.Asp375= | |
| XM_011516669.3:c.937_941delinsGACAA (SGCE) | XP_011514971.1:p.Asp313= | |
| XM_017012763.1:c.1123_1127delinsGACAA (SGCE) | XP_016868252.1:p.Asp375= | |
| XM_017012767.1:c.910_914delinsGACAA (SGCE) | XP_016868256.1:p.Asp304= | |
| XM_024446985.1:c.1087_1091delinsGACAA (SGCE) | XP_024302753.1:p.Asp363= | |
| XM_024446986.1:c.1060_1064delinsGACAA (SGCE) | XP_024302754.1:p.Asp354= | |
| NM_001099400.2:c.1183_1187delinsGACAA (SGCE) | NP_001092870.1:p.Asp395= | |
| NM_001099401.2:c.1210_1214delinsGACAA (SGCE) | NP_001092871.1:p.Asp404= | |
| NM_001301139.2:c.1087_1091delinsGACAA (SGCE) | NP_001288068.1:p.Asp363= | |
| NM_001346713.2:c.1318_1322delinsGACAA (SGCE) | NP_001333642.1:p.Asp440= | |
| NM_001346715.2:c.1291_1295delinsGACAA (SGCE) | NP_001333644.1:p.Asp431= | |
| NM_001346717.2:c.1183_1187delinsGACAA (SGCE) | NP_001333646.1:p.Asp395= | |
| NM_001346719.2:c.1123_1127delinsGACAA (SGCE) | NP_001333648.1:p.Asp375= | |
| NM_001346720.2:c.937_941delinsGACAA (SGCE) | NP_001333649.1:p.Asp313= | |
| NM_001362807.2:c.1096_1100delinsGACAA (SGCE) | NP_001349736.1:p.Asp366= | |
| NM_001362808.2:c.910_914delinsGACAA (SGCE) | NP_001349737.1:p.Asp304= | |
| NM_001362809.2:c.1060_1064delinsGACAA (SGCE) | NP_001349738.1:p.Asp354= | |
| NM_003919.3:c.1210_1214delinsGACAA (SGCE) MANE Select | NP_003910.1:p.Asp404= |