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.5982880_5982881delinsCT , CM000669.2:g.5982880_5982881delinsCT | GRCh38 |
| NC_000007.13:g.6022511_6022512delinsCT , CM000669.1:g.6022511_6022512delinsCT | GRCh37 |
| NC_000007.12:g.5989037_5989038delinsCT | NCBI36 |
| NG_008466.1:g.31226_31227delinsAG , LRG_161:g.31226_31227delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1513_*1514delinsAG | ENSP00000514615.2:n.*1513_*1514delinsAG | |
| ENST00000699840.2:c.2114_2115delinsAG | ENSP00000514638.2:p.Lys705= | |
| ENST00000699930.2:c.2009_2010delinsAG | ENSP00000514695.2:p.Lys670= | |
| ENST00000406569.8:c.1678+4206_1678+4207delinsAG | ENSP00000514464.1:n.1678+4206_1678+4207delinsAG | |
| ENST00000644110.2:c.*1711_*1712delinsAG | ENSP00000496392.2:n.*1711_*1712delinsAG | |
| ENST00000699752.1:c.1961_1962delinsAG | ENSP00000514561.1:p.Lys654= | |
| ENST00000699753.1:c.*1538_*1539delinsAG | ENSP00000514562.1:n.*1538_*1539delinsAG | |
| ENST00000699754.1:c.1919_1920delinsAG | ENSP00000514563.1:p.Lys640= | |
| ENST00000699755.1:c.*1516_*1517delinsAG | ENSP00000514564.1:n.*1516_*1517delinsAG | |
| ENST00000699756.1:c.*1704_*1705delinsAG | ENSP00000514565.1:n.*1704_*1705delinsAG | |
| ENST00000699757.1:c.*1374_*1375delinsAG | ENSP00000514566.1:n.*1374_*1375delinsAG | |
| ENST00000699758.1:c.*1374_*1375delinsAG | ENSP00000514567.1:n.*1374_*1375delinsAG | |
| ENST00000699759.1:n.2971_2972delinsAG | ||
| ENST00000699760.1:c.1799_1800delinsAG | ENSP00000514568.1:p.Lys600= | |
| ENST00000699761.1:c.1712_1713delinsAG | ENSP00000514569.1:p.Lys571= | |
| ENST00000699762.1:c.1544_1545delinsAG | ENSP00000514570.1:p.Lys515= | |
| ENST00000699763.1:c.*1207_*1208delinsAG | ENSP00000514571.1:n.*1207_*1208delinsAG | |
| ENST00000699764.1:c.*435_*436delinsAG | ENSP00000514572.1:n.*435_*436delinsAG | |
| ENST00000699765.1:c.*1213_*1214delinsAG | ENSP00000514573.1:n.*1213_*1214delinsAG | |
| ENST00000699766.1:c.2117_2118delinsAG | ENSP00000514574.1:p.Lys706= | |
| ENST00000699767.1:c.2117_2118delinsAG | ENSP00000514575.1:p.Lys706= | |
| ENST00000699768.1:c.2117_2118delinsAG | ENSP00000514576.1:p.Lys706= | |
| ENST00000699811.1:c.1712_1713delinsAG | ENSP00000514614.1:p.Lys571= | |
| ENST00000699813.1:n.2230_2231delinsAG | ||
| ENST00000699814.1:c.1740_1741delinsAG | ||
| ENST00000699815.1:c.*1648_*1649delinsAG | ENSP00000514616.1:n.*1648_*1649delinsAG | |
| ENST00000699816.1:c.*1007_*1008delinsAG | ENSP00000514617.1:n.*1007_*1008delinsAG | |
| ENST00000699817.1:c.*1711_*1712delinsAG | ENSP00000514618.1:n.*1711_*1712delinsAG | |
| ENST00000699818.1:c.1712_1713delinsAG | ENSP00000514619.1:p.Lys571= | |
| ENST00000699819.1:c.*1274_*1275delinsAG | ENSP00000514620.1:n.*1274_*1275delinsAG | |
| ENST00000699820.1:c.*55_*56delinsAG | ENSP00000514621.1:n.*55_*56delinsAG | |
| ENST00000699821.1:c.1712_1713delinsAG | ENSP00000514622.1:p.Lys571= | |
| ENST00000699822.1:c.*1569_*1570delinsAG | ENSP00000514623.1:n.*1569_*1570delinsAG | |
| ENST00000699823.1:c.1712_1713delinsAG | ENSP00000514624.1:p.Lys571= | |
| ENST00000699824.1:c.*1620_*1621delinsAG | ENSP00000514625.1:n.*1620_*1621delinsAG | |
| ENST00000699825.1:c.1556_1557delinsAG | ENSP00000514626.1:p.Lys519= | |
| ENST00000699826.1:c.*1516_*1517delinsAG | ENSP00000514627.1:n.*1516_*1517delinsAG | |
| ENST00000699827.1:c.1949_1950delinsAG | ENSP00000514628.1:p.Lys650= | |
| ENST00000699828.1:c.*1207_*1208delinsAG | ENSP00000514629.1:n.*1207_*1208delinsAG | |
| ENST00000699833.1:n.3889_3890delinsAG | ||
| ENST00000699837.1:c.1712_1713delinsAG | ENSP00000514635.1:p.Lys571= | |
| ENST00000699838.1:c.*2017_*2018delinsAG | ENSP00000514636.1:n.*2017_*2018delinsAG | |
| ENST00000699839.1:c.2303_2304delinsAG | ENSP00000514637.1:p.Lys768= | |
| ENST00000699916.1:c.*1374_*1375delinsAG | ENSP00000514684.1:n.*1374_*1375delinsAG | |
| ENST00000699917.1:c.*1566_*1567delinsAG | ENSP00000514685.1:n.*1566_*1567delinsAG | |
| ENST00000699918.1:c.*1618_*1619delinsAG | ENSP00000514686.1:n.*1618_*1619delinsAG | |
| ENST00000699919.1:c.*1704_*1705delinsAG | ENSP00000514687.1:n.*1704_*1705delinsAG | |
| ENST00000699920.1:c.*1753_*1754delinsAG | ENSP00000514688.1:n.*1753_*1754delinsAG | |
| ENST00000699928.1:c.*55_*56delinsAG | ENSP00000514693.1:n.*55_*56delinsAG | |
| ENST00000699951.1:c.*1213_*1214delinsAG | ENSP00000514706.1:n.*1213_*1214delinsAG | |
| ENST00000699952.1:c.804-9339_804-9338delinsAG | ENSP00000514707.1:n.804-9339_804-9338delinsAG | |
| ENST00000265849.12:c.2117_2118delinsAG MANE Select | ENSP00000265849.7:p.Lys706= | |
| ENST00000642292.1:c.1712_1713delinsAG | ENSP00000495524.1:p.Lys571= | |
| ENST00000642456.1:c.1712_1713delinsAG | ENSP00000493814.1:p.Lys571= | |
| ENST00000643595.1:c.*1516_*1517delinsAG | ENSP00000494497.1:n.*1516_*1517delinsAG | |
| ENST00000644110.1:c.1799_1800delinsAG | ENSP00000496392.1:p.Lys600= | |
| ENST00000265849.11:c.2117_2118delinsAG | ENSP00000265849.7:p.Lys706= | |
| ENST00000382321.5:c.914_915delinsAG | ENSP00000371758.4:p.Lys305= | |
| ENST00000406569.7:n.1678+4206_1678+4207delinsAG | ||
| ENST00000441476.6:c.1799_1800delinsAG | ENSP00000392843.2:p.Lys600= | |
| ENST00000469652.1:n.87_88delinsAG | ||
| NM_000535.5:c.2117_2118delinsAG , LRG_161t1:c.2117_2118delinsAG | NP_000526.1:p.Lys706= | |
| NR_003085.2:n.2199_2200delinsAG | ||
| XM_006715742.2:c.2111_2112delinsAG | XP_006715805.1:p.Lys704= | |
| XM_006715744.2:c.1184_1185delinsAG | XP_006715807.1:p.Lys395= | |
| XM_011515427.1:c.2162_2163delinsAG | XP_011513729.1:p.Lys721= | |
| XM_011515428.1:c.2006_2007delinsAG | XP_011513730.1:p.Lys669= | |
| XM_011515429.1:c.1799_1800delinsAG | XP_011513731.1:p.Lys600= | |
| XM_011515430.1:c.1799_1800delinsAG | XP_011513732.1:p.Lys600= | |
| NM_000535.6:c.2117_2118delinsAG | NP_000526.2:p.Lys706= | |
| NM_001322003.1:c.1712_1713delinsAG | NP_001308932.1:p.Lys571= | |
| NM_001322004.1:c.1712_1713delinsAG | NP_001308933.1:p.Lys571= | |
| NM_001322005.1:c.1712_1713delinsAG | NP_001308934.1:p.Lys571= | |
| NM_001322006.1:c.1961_1962delinsAG | NP_001308935.1:p.Lys654= | |
| NM_001322007.1:c.1799_1800delinsAG | NP_001308936.1:p.Lys600= | |
| NM_001322008.1:c.1799_1800delinsAG | NP_001308937.1:p.Lys600= | |
| NM_001322009.1:c.1712_1713delinsAG | NP_001308938.1:p.Lys571= | |
| NM_001322010.1:c.1556_1557delinsAG | NP_001308939.1:p.Lys519= | |
| NM_001322011.1:c.1184_1185delinsAG | NP_001308940.1:p.Lys395= | |
| NM_001322012.1:c.1184_1185delinsAG | NP_001308941.1:p.Lys395= | |
| NM_001322013.1:c.1544_1545delinsAG | NP_001308942.1:p.Lys515= | |
| NM_001322014.1:c.2117_2118delinsAG | NP_001308943.1:p.Lys706= | |
| NM_001322015.1:c.1808_1809delinsAG | NP_001308944.1:p.Lys603= | |
| NR_136154.1:n.2204_2205delinsAG | ||
| XM_006715744.4:c.1184_1185delinsAG | XP_006715807.1:p.Lys395= | |
| XM_017012342.2:c.1184_1185delinsAG | XP_016867831.1:p.Lys395= | |
| XM_024446800.1:c.1556_1557delinsAG | XP_024302568.1:p.Lys519= | |
| NM_000535.7:c.2117_2118delinsAG MANE Select | NP_000526.2:p.Lys706= | |
| NM_001322003.2:c.1712_1713delinsAG | NP_001308932.1:p.Lys571= | |
| NM_001322004.2:c.1712_1713delinsAG | NP_001308933.1:p.Lys571= | |
| NM_001322005.2:c.1712_1713delinsAG | NP_001308934.1:p.Lys571= | |
| NM_001322006.2:c.1961_1962delinsAG | NP_001308935.1:p.Lys654= | |
| NM_001322008.2:c.1799_1800delinsAG | NP_001308937.1:p.Lys600= | |
| NM_001322009.2:c.1712_1713delinsAG | NP_001308938.1:p.Lys571= | |
| NM_001322010.2:c.1556_1557delinsAG | NP_001308939.1:p.Lys519= | |
| NM_001322011.2:c.1184_1185delinsAG | NP_001308940.1:p.Lys395= | |
| NM_001322012.2:c.1184_1185delinsAG | NP_001308941.1:p.Lys395= | |
| NM_001322013.2:c.1544_1545delinsAG | NP_001308942.1:p.Lys515= | |
| NM_001322014.2:c.2117_2118delinsAG | NP_001308943.1:p.Lys706= | |
| NM_001322015.2:c.1808_1809delinsAG | NP_001308944.1:p.Lys603= | |
| NM_001322007.2:c.1799_1800delinsAG | NP_001308936.1:p.Lys600= |