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.5987074_5987076delinsACT , CM000669.2:g.5987074_5987076delinsACT | GRCh38 |
| NC_000007.13:g.6026705_6026707delinsACT , CM000669.1:g.6026705_6026707delinsACT | GRCh37 |
| NC_000007.12:g.5993231_5993233delinsACT | NCBI36 |
| NG_008466.1:g.27031_27033delinsAGT , LRG_161:g.27031_27033delinsAGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1085_*1087delinsAGT | ENSP00000514615.2:n.*1085_*1087delinsAGT | |
| ENST00000699840.2:c.1686_1688delinsAGT | ENSP00000514638.2:p.Arg562= | |
| ENST00000699930.2:c.1581_1583delinsAGT | ENSP00000514695.2:p.Arg527= | |
| ENST00000406569.8:c.1678+11_1678+13delinsAGT | ENSP00000514464.1:n.1678+11_1678+13delins... | |
| ENST00000644110.2:c.*1283_*1285delinsAGT | ENSP00000496392.2:n.*1283_*1285delinsAGT | |
| ENST00000699752.1:c.1533_1535delinsAGT | ENSP00000514561.1:p.Arg511= | |
| ENST00000699753.1:c.*1110_*1112delinsAGT | ENSP00000514562.1:n.*1110_*1112delinsAGT | |
| ENST00000699754.1:c.1491_1493delinsAGT | ENSP00000514563.1:p.Arg497= | |
| ENST00000699755.1:c.*1088_*1090delinsAGT | ENSP00000514564.1:n.*1088_*1090delinsAGT | |
| ENST00000699756.1:c.*1276_*1278delinsAGT | ENSP00000514565.1:n.*1276_*1278delinsAGT | |
| ENST00000699757.1:c.*946_*948delinsAGT | ENSP00000514566.1:n.*946_*948delinsAGT | |
| ENST00000699758.1:c.*946_*948delinsAGT | ENSP00000514567.1:n.*946_*948delinsAGT | |
| ENST00000699759.1:n.2543_2545delinsAGT | ||
| ENST00000699760.1:c.1371_1373delinsAGT | ENSP00000514568.1:p.Arg457= | |
| ENST00000699761.1:c.1284_1286delinsAGT | ENSP00000514569.1:p.Arg428= | |
| ENST00000699762.1:c.1116_1118delinsAGT | ENSP00000514570.1:p.Arg372= | |
| ENST00000699763.1:c.*779_*781delinsAGT | ENSP00000514571.1:n.*779_*781delinsAGT | |
| ENST00000699764.1:c.*7_*9delinsAGT | ENSP00000514572.1:n.*7_*9delinsAGT | |
| ENST00000699765.1:c.*785_*787delinsAGT | ENSP00000514573.1:n.*785_*787delinsAGT | |
| ENST00000699766.1:c.1689_1691delinsAGT | ENSP00000514574.1:p.Arg563= | |
| ENST00000699767.1:c.1689_1691delinsAGT | ENSP00000514575.1:p.Arg563= | |
| ENST00000699768.1:c.1689_1691delinsAGT | ENSP00000514576.1:p.Arg563= | |
| ENST00000699811.1:c.1284_1286delinsAGT | ENSP00000514614.1:p.Arg428= | |
| ENST00000699813.1:n.1802_1804delinsAGT | ||
| ENST00000699814.1:c.1312_1314delinsAGT | ||
| ENST00000699815.1:c.*1220_*1222delinsAGT | ENSP00000514616.1:n.*1220_*1222delinsAGT | |
| ENST00000699816.1:c.*579_*581delinsAGT | ENSP00000514617.1:n.*579_*581delinsAGT | |
| ENST00000699817.1:c.*1283_*1285delinsAGT | ENSP00000514618.1:n.*1283_*1285delinsAGT | |
| ENST00000699818.1:c.1284_1286delinsAGT | ENSP00000514619.1:p.Arg428= | |
| ENST00000699819.1:c.*846_*848delinsAGT | ENSP00000514620.1:n.*846_*848delinsAGT | |
| ENST00000699820.1:c.1144+2724_1144+2726delinsAGT | ENSP00000514621.1:n.1144+2724_1144+2726de... | |
| ENST00000699821.1:c.1284_1286delinsAGT | ENSP00000514622.1:p.Arg428= | |
| ENST00000699822.1:c.*1141_*1143delinsAGT | ENSP00000514623.1:n.*1141_*1143delinsAGT | |
| ENST00000699823.1:c.1284_1286delinsAGT | ENSP00000514624.1:p.Arg428= | |
| ENST00000699824.1:c.*1192_*1194delinsAGT | ENSP00000514625.1:n.*1192_*1194delinsAGT | |
| ENST00000699825.1:c.1128_1130delinsAGT | ENSP00000514626.1:p.Arg376= | |
| ENST00000699826.1:c.*1088_*1090delinsAGT | ENSP00000514627.1:n.*1088_*1090delinsAGT | |
| ENST00000699827.1:c.1521_1523delinsAGT | ENSP00000514628.1:p.Arg507= | |
| ENST00000699828.1:c.*779_*781delinsAGT | ENSP00000514629.1:n.*779_*781delinsAGT | |
| ENST00000699833.1:n.3461_3463delinsAGT | ||
| ENST00000699837.1:c.1284_1286delinsAGT | ENSP00000514635.1:p.Arg428= | |
| ENST00000699838.1:c.*1589_*1591delinsAGT | ENSP00000514636.1:n.*1589_*1591delinsAGT | |
| ENST00000699839.1:c.1875_1877delinsAGT | ENSP00000514637.1:p.Arg625= | |
| ENST00000699916.1:c.*946_*948delinsAGT | ENSP00000514684.1:n.*946_*948delinsAGT | |
| ENST00000699917.1:c.*1138_*1140delinsAGT | ENSP00000514685.1:n.*1138_*1140delinsAGT | |
| ENST00000699918.1:c.*1190_*1192delinsAGT | ENSP00000514686.1:n.*1190_*1192delinsAGT | |
| ENST00000699919.1:c.*1276_*1278delinsAGT | ENSP00000514687.1:n.*1276_*1278delinsAGT | |
| ENST00000699920.1:c.*1325_*1327delinsAGT | ENSP00000514688.1:n.*1325_*1327delinsAGT | |
| ENST00000699928.1:c.989-4085_989-4083delinsAGT | ENSP00000514693.1:n.989-4085_989-4083deli... | |
| ENST00000699929.1:c.*990_*992delinsAGT | ENSP00000514694.1:n.*990_*992delinsAGT | |
| ENST00000699930.1:c.1581_1583delinsAGT | ENSP00000514695.1:p.Arg527= | |
| ENST00000699931.1:n.3117_3119delinsAGT | ||
| ENST00000699951.1:c.*785_*787delinsAGT | ENSP00000514706.1:n.*785_*787delinsAGT | |
| ENST00000699952.1:c.803+10250_803+10252delinsAGT | ENSP00000514707.1:n.803+10250_803+10252de... | |
| ENST00000699953.1:c.*796_*798delinsAGT | ENSP00000514708.1:n.*796_*798delinsAGT | |
| ENST00000699954.1:c.*990_*992delinsAGT | ENSP00000514709.1:n.*990_*992delinsAGT | |
| ENST00000265849.12:c.1689_1691delinsAGT MANE Select | ENSP00000265849.7:p.Arg563= | |
| ENST00000642292.1:c.1284_1286delinsAGT | ENSP00000495524.1:p.Arg428= | |
| ENST00000642456.1:c.1284_1286delinsAGT | ENSP00000493814.1:p.Arg428= | |
| ENST00000643595.1:c.*1088_*1090delinsAGT | ENSP00000494497.1:n.*1088_*1090delinsAGT | |
| ENST00000644110.1:c.1371_1373delinsAGT | ENSP00000496392.1:p.Arg457= | |
| ENST00000265849.11:c.1689_1691delinsAGT | ENSP00000265849.7:p.Arg563= | |
| ENST00000382321.5:c.804-4085_804-4083delinsAGT | ENSP00000371758.4:n.804-4085_804-4083deli... | |
| ENST00000406569.7:n.1678+11_1678+13delinsAGT | ||
| ENST00000441476.6:c.1371_1373delinsAGT | ENSP00000392843.2:p.Arg457= | |
| ENST00000469652.1:n.63-4171_63-4169delinsAGT | ||
| NM_000535.5:c.1689_1691delinsAGT , LRG_161t1:c.1689_1691delinsAGT | NP_000526.1:p.Arg563= | |
| NR_003085.2:n.1771_1773delinsAGT | ||
| XM_006715742.2:c.1683_1685delinsAGT | XP_006715805.1:p.Arg561= | |
| XM_006715744.2:c.756_758delinsAGT | XP_006715807.1:p.Arg252= | |
| XM_011515427.1:c.1734_1736delinsAGT | XP_011513729.1:p.Arg578= | |
| XM_011515428.1:c.1578_1580delinsAGT | XP_011513730.1:p.Arg526= | |
| XM_011515429.1:c.1371_1373delinsAGT | XP_011513731.1:p.Arg457= | |
| XM_011515430.1:c.1371_1373delinsAGT | XP_011513732.1:p.Arg457= | |
| NM_000535.6:c.1689_1691delinsAGT | NP_000526.2:p.Arg563= | |
| NM_001322003.1:c.1284_1286delinsAGT | NP_001308932.1:p.Arg428= | |
| NM_001322004.1:c.1284_1286delinsAGT | NP_001308933.1:p.Arg428= | |
| NM_001322005.1:c.1284_1286delinsAGT | NP_001308934.1:p.Arg428= | |
| NM_001322006.1:c.1533_1535delinsAGT | NP_001308935.1:p.Arg511= | |
| NM_001322007.1:c.1371_1373delinsAGT | NP_001308936.1:p.Arg457= | |
| NM_001322008.1:c.1371_1373delinsAGT | NP_001308937.1:p.Arg457= | |
| NM_001322009.1:c.1284_1286delinsAGT | NP_001308938.1:p.Arg428= | |
| NM_001322010.1:c.1128_1130delinsAGT | NP_001308939.1:p.Arg376= | |
| NM_001322011.1:c.756_758delinsAGT | NP_001308940.1:p.Arg252= | |
| NM_001322012.1:c.756_758delinsAGT | NP_001308941.1:p.Arg252= | |
| NM_001322013.1:c.1116_1118delinsAGT | NP_001308942.1:p.Arg372= | |
| NM_001322014.1:c.1689_1691delinsAGT | NP_001308943.1:p.Arg563= | |
| NM_001322015.1:c.1380_1382delinsAGT | NP_001308944.1:p.Arg460= | |
| NR_136154.1:n.1776_1778delinsAGT | ||
| XM_006715744.4:c.756_758delinsAGT | XP_006715807.1:p.Arg252= | |
| XM_017012342.2:c.756_758delinsAGT | XP_016867831.1:p.Arg252= | |
| XM_024446800.1:c.1128_1130delinsAGT | XP_024302568.1:p.Arg376= | |
| NM_000535.7:c.1689_1691delinsAGT MANE Select | NP_000526.2:p.Arg563= | |
| NM_001322003.2:c.1284_1286delinsAGT | NP_001308932.1:p.Arg428= | |
| NM_001322004.2:c.1284_1286delinsAGT | NP_001308933.1:p.Arg428= | |
| NM_001322005.2:c.1284_1286delinsAGT | NP_001308934.1:p.Arg428= | |
| NM_001322006.2:c.1533_1535delinsAGT | NP_001308935.1:p.Arg511= | |
| NM_001322008.2:c.1371_1373delinsAGT | NP_001308937.1:p.Arg457= | |
| NM_001322009.2:c.1284_1286delinsAGT | NP_001308938.1:p.Arg428= | |
| NM_001322010.2:c.1128_1130delinsAGT | NP_001308939.1:p.Arg376= | |
| NM_001322011.2:c.756_758delinsAGT | NP_001308940.1:p.Arg252= | |
| NM_001322012.2:c.756_758delinsAGT | NP_001308941.1:p.Arg252= | |
| NM_001322013.2:c.1116_1118delinsAGT | NP_001308942.1:p.Arg372= | |
| NM_001322014.2:c.1689_1691delinsAGT | NP_001308943.1:p.Arg563= | |
| NM_001322015.2:c.1380_1382delinsAGT | NP_001308944.1:p.Arg460= | |
| NM_001322007.2:c.1371_1373delinsAGT | NP_001308936.1:p.Arg457= |