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.5987076_5987077del , CM000669.2:g.5987076_5987077del | GRCh38 |
| NC_000007.13:g.6026707_6026708del , CM000669.1:g.6026707_6026708del | GRCh37 |
| NC_000007.12:g.5993233_5993234del | NCBI36 |
| NG_008466.1:g.27031_27032del , LRG_161:g.27031_27032del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1085_*1086del | ENSP00000514615.2:n.*1085_*1086del | |
| ENST00000699840.2:c.1686_1687del | ENSP00000514638.2:p.Val563PhefsTer6 | |
| ENST00000699930.2:c.1581_1582del | ENSP00000514695.2:p.Val528PhefsTer6 | |
| ENST00000406569.8:c.1678+11_1678+12del | ENSP00000514464.1:n.1678+11_1678+12del | |
| ENST00000644110.2:c.*1283_*1284del | ENSP00000496392.2:n.*1283_*1284del | |
| ENST00000699752.1:c.1533_1534del | ENSP00000514561.1:p.Val512PhefsTer6 | |
| ENST00000699753.1:c.*1110_*1111del | ENSP00000514562.1:n.*1110_*1111del | |
| ENST00000699754.1:c.1491_1492del | ENSP00000514563.1:p.Val498PhefsTer6 | |
| ENST00000699755.1:c.*1088_*1089del | ENSP00000514564.1:n.*1088_*1089del | |
| ENST00000699756.1:c.*1276_*1277del | ENSP00000514565.1:n.*1276_*1277del | |
| ENST00000699757.1:c.*946_*947del | ENSP00000514566.1:n.*946_*947del | |
| ENST00000699758.1:c.*946_*947del | ENSP00000514567.1:n.*946_*947del | |
| ENST00000699759.1:n.2543_2544del | ||
| ENST00000699760.1:c.1371_1372del | ENSP00000514568.1:p.Val458PhefsTer6 | |
| ENST00000699761.1:c.1284_1285del | ENSP00000514569.1:p.Val429PhefsTer6 | |
| ENST00000699762.1:c.1116_1117del | ENSP00000514570.1:p.Val373PhefsTer6 | |
| ENST00000699763.1:c.*779_*780del | ENSP00000514571.1:n.*779_*780del | |
| ENST00000699764.1:c.*7_*8del | ENSP00000514572.1:n.*7_*8del | |
| ENST00000699765.1:c.*785_*786del | ENSP00000514573.1:n.*785_*786del | |
| ENST00000699766.1:c.1689_1690del | ENSP00000514574.1:p.Val564PhefsTer6 | |
| ENST00000699767.1:c.1689_1690del | ENSP00000514575.1:p.Val564PhefsTer6 | |
| ENST00000699768.1:c.1689_1690del | ENSP00000514576.1:p.Val564PhefsTer6 | |
| ENST00000699811.1:c.1284_1285del | ENSP00000514614.1:p.Val429PhefsTer6 | |
| ENST00000699813.1:n.1802_1803del | ||
| ENST00000699814.1:c.1312_1313del | ||
| ENST00000699815.1:c.*1220_*1221del | ENSP00000514616.1:n.*1220_*1221del | |
| ENST00000699816.1:c.*579_*580del | ENSP00000514617.1:n.*579_*580del | |
| ENST00000699817.1:c.*1283_*1284del | ENSP00000514618.1:n.*1283_*1284del | |
| ENST00000699818.1:c.1284_1285del | ENSP00000514619.1:p.Val429PhefsTer6 | |
| ENST00000699819.1:c.*846_*847del | ENSP00000514620.1:n.*846_*847del | |
| ENST00000699820.1:c.1144+2724_1144+2725del | ENSP00000514621.1:n.1144+2724_1144+2725de... | |
| ENST00000699821.1:c.1284_1285del | ENSP00000514622.1:p.Val429PhefsTer6 | |
| ENST00000699822.1:c.*1141_*1142del | ENSP00000514623.1:n.*1141_*1142del | |
| ENST00000699823.1:c.1284_1285del | ENSP00000514624.1:p.Val429PhefsTer6 | |
| ENST00000699824.1:c.*1192_*1193del | ENSP00000514625.1:n.*1192_*1193del | |
| ENST00000699825.1:c.1128_1129del | ENSP00000514626.1:p.Val377PhefsTer6 | |
| ENST00000699826.1:c.*1088_*1089del | ENSP00000514627.1:n.*1088_*1089del | |
| ENST00000699827.1:c.1521_1522del | ENSP00000514628.1:p.Val508PhefsTer6 | |
| ENST00000699828.1:c.*779_*780del | ENSP00000514629.1:n.*779_*780del | |
| ENST00000699833.1:n.3461_3462del | ||
| ENST00000699837.1:c.1284_1285del | ENSP00000514635.1:p.Val429PhefsTer6 | |
| ENST00000699838.1:c.*1589_*1590del | ENSP00000514636.1:n.*1589_*1590del | |
| ENST00000699839.1:c.1875_1876del | ENSP00000514637.1:p.Val626PhefsTer6 | |
| ENST00000699916.1:c.*946_*947del | ENSP00000514684.1:n.*946_*947del | |
| ENST00000699917.1:c.*1138_*1139del | ENSP00000514685.1:n.*1138_*1139del | |
| ENST00000699918.1:c.*1190_*1191del | ENSP00000514686.1:n.*1190_*1191del | |
| ENST00000699919.1:c.*1276_*1277del | ENSP00000514687.1:n.*1276_*1277del | |
| ENST00000699920.1:c.*1325_*1326del | ENSP00000514688.1:n.*1325_*1326del | |
| ENST00000699928.1:c.989-4085_989-4084del | ENSP00000514693.1:n.989-4085_989-4084del | |
| ENST00000699929.1:c.*990_*991del | ENSP00000514694.1:n.*990_*991del | |
| ENST00000699930.1:c.1581_1582del | ENSP00000514695.1:p.Val528PhefsTer6 | |
| ENST00000699931.1:n.3117_3118del | ||
| ENST00000699951.1:c.*785_*786del | ENSP00000514706.1:n.*785_*786del | |
| ENST00000699952.1:c.803+10250_803+10251del | ENSP00000514707.1:n.803+10250_803+10251de... | |
| ENST00000699953.1:c.*796_*797del | ENSP00000514708.1:n.*796_*797del | |
| ENST00000699954.1:c.*990_*991del | ENSP00000514709.1:n.*990_*991del | |
| ENST00000265849.12:c.1689_1690del MANE Select | ENSP00000265849.7:p.Val564PhefsTer6 | |
| ENST00000642292.1:c.1284_1285del | ENSP00000495524.1:p.Val429PhefsTer6 | |
| ENST00000642456.1:c.1284_1285del | ENSP00000493814.1:p.Val429PhefsTer6 | |
| ENST00000643595.1:c.*1088_*1089del | ENSP00000494497.1:n.*1088_*1089del | |
| ENST00000644110.1:c.1371_1372del | ENSP00000496392.1:p.Val458PhefsTer6 | |
| ENST00000265849.11:c.1689_1690del | ENSP00000265849.7:p.Val564PhefsTer6 | |
| ENST00000382321.5:c.804-4085_804-4084del | ENSP00000371758.4:n.804-4085_804-4084del | |
| ENST00000406569.7:n.1678+11_1678+12del | ||
| ENST00000441476.6:c.1371_1372del | ENSP00000392843.2:p.Val458PhefsTer6 | |
| ENST00000469652.1:n.63-4171_63-4170del | ||
| NM_000535.5:c.1689_1690del , LRG_161t1:c.1689_1690del | NP_000526.1:p.Val564PhefsTer6 | |
| NR_003085.2:n.1771_1772del | ||
| XM_006715742.2:c.1683_1684del | XP_006715805.1:p.Val562PhefsTer6 | |
| XM_006715744.2:c.756_757del | XP_006715807.1:p.Val253PhefsTer6 | |
| XM_011515427.1:c.1734_1735del | XP_011513729.1:p.Val579PhefsTer6 | |
| XM_011515428.1:c.1578_1579del | XP_011513730.1:p.Val527PhefsTer6 | |
| XM_011515429.1:c.1371_1372del | XP_011513731.1:p.Val458PhefsTer6 | |
| XM_011515430.1:c.1371_1372del | XP_011513732.1:p.Val458PhefsTer6 | |
| NM_000535.6:c.1689_1690del | NP_000526.2:p.Val564PhefsTer6 | |
| NM_001322003.1:c.1284_1285del | NP_001308932.1:p.Val429PhefsTer6 | |
| NM_001322004.1:c.1284_1285del | NP_001308933.1:p.Val429PhefsTer6 | |
| NM_001322005.1:c.1284_1285del | NP_001308934.1:p.Val429PhefsTer6 | |
| NM_001322006.1:c.1533_1534del | NP_001308935.1:p.Val512PhefsTer6 | |
| NM_001322007.1:c.1371_1372del | NP_001308936.1:p.Val458PhefsTer6 | |
| NM_001322008.1:c.1371_1372del | NP_001308937.1:p.Val458PhefsTer6 | |
| NM_001322009.1:c.1284_1285del | NP_001308938.1:p.Val429PhefsTer6 | |
| NM_001322010.1:c.1128_1129del | NP_001308939.1:p.Val377PhefsTer6 | |
| NM_001322011.1:c.756_757del | NP_001308940.1:p.Val253PhefsTer6 | |
| NM_001322012.1:c.756_757del | NP_001308941.1:p.Val253PhefsTer6 | |
| NM_001322013.1:c.1116_1117del | NP_001308942.1:p.Val373PhefsTer6 | |
| NM_001322014.1:c.1689_1690del | NP_001308943.1:p.Val564PhefsTer6 | |
| NM_001322015.1:c.1380_1381del | NP_001308944.1:p.Val461PhefsTer6 | |
| NR_136154.1:n.1776_1777del | ||
| XM_006715744.4:c.756_757del | XP_006715807.1:p.Val253PhefsTer6 | |
| XM_017012342.2:c.756_757del | XP_016867831.1:p.Val253PhefsTer6 | |
| XM_024446800.1:c.1128_1129del | XP_024302568.1:p.Val377PhefsTer6 | |
| NM_000535.7:c.1689_1690del MANE Select | NP_000526.2:p.Val564PhefsTer6 | |
| NM_001322003.2:c.1284_1285del | NP_001308932.1:p.Val429PhefsTer6 | |
| NM_001322004.2:c.1284_1285del | NP_001308933.1:p.Val429PhefsTer6 | |
| NM_001322005.2:c.1284_1285del | NP_001308934.1:p.Val429PhefsTer6 | |
| NM_001322006.2:c.1533_1534del | NP_001308935.1:p.Val512PhefsTer6 | |
| NM_001322008.2:c.1371_1372del | NP_001308937.1:p.Val458PhefsTer6 | |
| NM_001322009.2:c.1284_1285del | NP_001308938.1:p.Val429PhefsTer6 | |
| NM_001322010.2:c.1128_1129del | NP_001308939.1:p.Val377PhefsTer6 | |
| NM_001322011.2:c.756_757del | NP_001308940.1:p.Val253PhefsTer6 | |
| NM_001322012.2:c.756_757del | NP_001308941.1:p.Val253PhefsTer6 | |
| NM_001322013.2:c.1116_1117del | NP_001308942.1:p.Val373PhefsTer6 | |
| NM_001322014.2:c.1689_1690del | NP_001308943.1:p.Val564PhefsTer6 | |
| NM_001322015.2:c.1380_1381del | NP_001308944.1:p.Val461PhefsTer6 | |
| NM_001322007.2:c.1371_1372del | NP_001308936.1:p.Val458PhefsTer6 |