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.5982611_5982612delinsAC , CM000669.2:g.5982611_5982612delinsAC | GRCh38 |
| NC_000007.13:g.6022242_6022243delinsAC , CM000669.1:g.6022242_6022243delinsAC | GRCh37 |
| NC_000007.12:g.5988768_5988769delinsAC | NCBI36 |
| NG_008466.1:g.31495_31496delinsGT , LRG_161:g.31495_31496delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1570+212_*1570+213delinsGT | ENSP00000514615.2:n.*1570+212_*1570+213delinsGT | |
| ENST00000699840.2:c.2171+212_2171+213delinsGT | ENSP00000514638.2:n.2171+212_2171+213delinsGT | |
| ENST00000699930.2:c.2066+212_2066+213delinsGT | ENSP00000514695.2:n.2066+212_2066+213delinsGT | |
| ENST00000406569.8:c.1678+4475_1678+4476delinsGT | ENSP00000514464.1:n.1678+4475_1678+4476delinsGT | |
| ENST00000644110.2:c.*1768+212_*1768+213delinsGT | ENSP00000496392.2:n.*1768+212_*1768+213delinsGT | |
| ENST00000699752.1:c.2018+212_2018+213delinsGT | ENSP00000514561.1:n.2018+212_2018+213delinsGT | |
| ENST00000699753.1:c.*1595+212_*1595+213delinsGT | ENSP00000514562.1:n.*1595+212_*1595+213delinsGT | |
| ENST00000699754.1:c.1976+212_1976+213delinsGT | ENSP00000514563.1:n.1976+212_1976+213delinsGT | |
| ENST00000699755.1:c.*1573+212_*1573+213delinsGT | ENSP00000514564.1:n.*1573+212_*1573+213delinsGT | |
| ENST00000699756.1:c.*1761+212_*1761+213delinsGT | ENSP00000514565.1:n.*1761+212_*1761+213delinsGT | |
| ENST00000699757.1:c.*1431+212_*1431+213delinsGT | ENSP00000514566.1:n.*1431+212_*1431+213delinsGT | |
| ENST00000699758.1:c.*1431+212_*1431+213delinsGT | ENSP00000514567.1:n.*1431+212_*1431+213delinsGT | |
| ENST00000699759.1:n.3028+212_3028+213delinsGT | ||
| ENST00000699760.1:c.1856+212_1856+213delinsGT | ENSP00000514568.1:n.1856+212_1856+213delinsGT | |
| ENST00000699761.1:c.1769+212_1769+213delinsGT | ENSP00000514569.1:n.1769+212_1769+213delinsGT | |
| ENST00000699762.1:c.1601+212_1601+213delinsGT | ENSP00000514570.1:n.1601+212_1601+213delinsGT | |
| ENST00000699763.1:c.*1264+212_*1264+213delinsGT | ENSP00000514571.1:n.*1264+212_*1264+213delinsGT | |
| ENST00000699764.1:c.*492+212_*492+213delinsGT | ENSP00000514572.1:n.*492+212_*492+213delinsGT | |
| ENST00000699765.1:c.*1270+212_*1270+213delinsGT | ENSP00000514573.1:n.*1270+212_*1270+213delinsGT | |
| ENST00000699766.1:c.2174+212_2174+213delinsGT | ENSP00000514574.1:n.2174+212_2174+213delinsGT | |
| ENST00000699767.1:c.2174+212_2174+213delinsGT | ENSP00000514575.1:n.2174+212_2174+213delinsGT | |
| ENST00000699768.1:c.2174+212_2174+213delinsGT | ENSP00000514576.1:n.2174+212_2174+213delinsGT | |
| ENST00000699811.1:c.1769+212_1769+213delinsGT | ENSP00000514614.1:n.1769+212_1769+213delinsGT | |
| ENST00000699813.1:n.2287+212_2287+213delinsGT | ||
| ENST00000699814.1:c.1797+212_1797+213delinsGT | ||
| ENST00000699815.1:c.*1705+212_*1705+213delinsGT | ENSP00000514616.1:n.*1705+212_*1705+213delinsGT | |
| ENST00000699816.1:c.*1064+212_*1064+213delinsGT | ENSP00000514617.1:n.*1064+212_*1064+213delinsGT | |
| ENST00000699817.1:c.*1768+212_*1768+213delinsGT | ENSP00000514618.1:n.*1768+212_*1768+213delinsGT | |
| ENST00000699818.1:c.1769+212_1769+213delinsGT | ENSP00000514619.1:n.1769+212_1769+213delinsGT | |
| ENST00000699819.1:c.*1331+212_*1331+213delinsGT | ENSP00000514620.1:n.*1331+212_*1331+213delinsGT | |
| ENST00000699820.1:c.*112+212_*112+213delinsGT | ENSP00000514621.1:n.*112+212_*112+213delinsGT | |
| ENST00000699821.1:c.1769+212_1769+213delinsGT | ENSP00000514622.1:n.1769+212_1769+213delinsGT | |
| ENST00000699822.1:c.*1626+212_*1626+213delinsGT | ENSP00000514623.1:n.*1626+212_*1626+213delinsGT | |
| ENST00000699823.1:c.1769+212_1769+213delinsGT | ENSP00000514624.1:n.1769+212_1769+213delinsGT | |
| ENST00000699824.1:c.*1677+212_*1677+213delinsGT | ENSP00000514625.1:n.*1677+212_*1677+213delinsGT | |
| ENST00000699825.1:c.1613+212_1613+213delinsGT | ENSP00000514626.1:n.1613+212_1613+213delinsGT | |
| ENST00000699826.1:c.*1573+212_*1573+213delinsGT | ENSP00000514627.1:n.*1573+212_*1573+213delinsGT | |
| ENST00000699827.1:c.2006+212_2006+213delinsGT | ENSP00000514628.1:n.2006+212_2006+213delinsGT | |
| ENST00000699828.1:c.*1264+212_*1264+213delinsGT | ENSP00000514629.1:n.*1264+212_*1264+213delinsGT | |
| ENST00000699833.1:n.3946+212_3946+213delinsGT | ||
| ENST00000699837.1:c.1769+212_1769+213delinsGT | ENSP00000514635.1:n.1769+212_1769+213delinsGT | |
| ENST00000699838.1:c.*2074+212_*2074+213delinsGT | ENSP00000514636.1:n.*2074+212_*2074+213delinsGT | |
| ENST00000699839.1:c.2360+212_2360+213delinsGT | ENSP00000514637.1:n.2360+212_2360+213delinsGT | |
| ENST00000699916.1:c.*1431+212_*1431+213delinsGT | ENSP00000514684.1:n.*1431+212_*1431+213delinsGT | |
| ENST00000699917.1:c.*1623+212_*1623+213delinsGT | ENSP00000514685.1:n.*1623+212_*1623+213delinsGT | |
| ENST00000699918.1:c.*1675+212_*1675+213delinsGT | ENSP00000514686.1:n.*1675+212_*1675+213delinsGT | |
| ENST00000699919.1:c.*1761+212_*1761+213delinsGT | ENSP00000514687.1:n.*1761+212_*1761+213delinsGT | |
| ENST00000699920.1:c.*1810+212_*1810+213delinsGT | ENSP00000514688.1:n.*1810+212_*1810+213delinsGT | |
| ENST00000699928.1:c.*112+212_*112+213delinsGT | ENSP00000514693.1:n.*112+212_*112+213delinsGT | |
| ENST00000699951.1:c.*1270+212_*1270+213delinsGT | ENSP00000514706.1:n.*1270+212_*1270+213delinsGT | |
| ENST00000699952.1:c.804-9070_804-9069delinsGT | ENSP00000514707.1:n.804-9070_804-9069delinsGT | |
| ENST00000265849.12:c.2174+212_2174+213delinsGT MANE Select | ENSP00000265849.7:n.2174+212_2174+213delinsGT | |
| ENST00000642292.1:c.1769+212_1769+213delinsGT | ENSP00000495524.1:n.1769+212_1769+213delinsGT | |
| ENST00000642456.1:c.1769+212_1769+213delinsGT | ENSP00000493814.1:n.1769+212_1769+213delinsGT | |
| ENST00000643595.1:c.*1573+212_*1573+213delinsGT | ENSP00000494497.1:n.*1573+212_*1573+213delinsGT | |
| ENST00000644110.1:c.1856+212_1856+213delinsGT | ENSP00000496392.1:n.1856+212_1856+213delinsGT | |
| ENST00000265849.11:c.2174+212_2174+213delinsGT | ENSP00000265849.7:n.2174+212_2174+213delinsGT | |
| ENST00000382321.5:c.971+212_971+213delinsGT | ENSP00000371758.4:n.971+212_971+213delinsGT | |
| ENST00000406569.7:n.1678+4475_1678+4476delinsGT | ||
| ENST00000441476.6:c.1856+212_1856+213delinsGT | ENSP00000392843.2:n.1856+212_1856+213delinsGT | |
| NM_000535.5:c.2174+212_2174+213delinsGT , LRG_161t1:c.2174+212_2174+213delinsGT | NP_000526.1:n.2174+212_2174+213delinsGT | |
| NR_003085.2:n.2256+212_2256+213delinsGT | ||
| XM_006715742.2:c.2168+212_2168+213delinsGT | XP_006715805.1:n.2168+212_2168+213delinsGT | |
| XM_006715744.2:c.1241+212_1241+213delinsGT | XP_006715807.1:n.1241+212_1241+213delinsGT | |
| XM_011515427.1:c.2219+212_2219+213delinsGT | XP_011513729.1:n.2219+212_2219+213delinsGT | |
| XM_011515428.1:c.2063+212_2063+213delinsGT | XP_011513730.1:n.2063+212_2063+213delinsGT | |
| XM_011515429.1:c.1856+212_1856+213delinsGT | XP_011513731.1:n.1856+212_1856+213delinsGT | |
| XM_011515430.1:c.1856+212_1856+213delinsGT | XP_011513732.1:n.1856+212_1856+213delinsGT | |
| NM_000535.6:c.2174+212_2174+213delinsGT | NP_000526.2:n.2174+212_2174+213delinsGT | |
| NM_001322003.1:c.1769+212_1769+213delinsGT | NP_001308932.1:n.1769+212_1769+213delinsGT | |
| NM_001322004.1:c.1769+212_1769+213delinsGT | NP_001308933.1:n.1769+212_1769+213delinsGT | |
| NM_001322005.1:c.1769+212_1769+213delinsGT | NP_001308934.1:n.1769+212_1769+213delinsGT | |
| NM_001322006.1:c.2018+212_2018+213delinsGT | NP_001308935.1:n.2018+212_2018+213delinsGT | |
| NM_001322007.1:c.1856+212_1856+213delinsGT | NP_001308936.1:n.1856+212_1856+213delinsGT | |
| NM_001322008.1:c.1856+212_1856+213delinsGT | NP_001308937.1:n.1856+212_1856+213delinsGT | |
| NM_001322009.1:c.1769+212_1769+213delinsGT | NP_001308938.1:n.1769+212_1769+213delinsGT | |
| NM_001322010.1:c.1613+212_1613+213delinsGT | NP_001308939.1:n.1613+212_1613+213delinsGT | |
| NM_001322011.1:c.1241+212_1241+213delinsGT | NP_001308940.1:n.1241+212_1241+213delinsGT | |
| NM_001322012.1:c.1241+212_1241+213delinsGT | NP_001308941.1:n.1241+212_1241+213delinsGT | |
| NM_001322013.1:c.1601+212_1601+213delinsGT | NP_001308942.1:n.1601+212_1601+213delinsGT | |
| NM_001322014.1:c.2174+212_2174+213delinsGT | NP_001308943.1:n.2174+212_2174+213delinsGT | |
| NM_001322015.1:c.1865+212_1865+213delinsGT | NP_001308944.1:n.1865+212_1865+213delinsGT | |
| NR_136154.1:n.2261+212_2261+213delinsGT | ||
| XM_006715744.4:c.1241+212_1241+213delinsGT | XP_006715807.1:n.1241+212_1241+213delinsGT | |
| XM_017012342.2:c.1241+212_1241+213delinsGT | XP_016867831.1:n.1241+212_1241+213delinsGT | |
| XM_024446800.1:c.1613+212_1613+213delinsGT | XP_024302568.1:n.1613+212_1613+213delinsGT | |
| NM_000535.7:c.2174+212_2174+213delinsGT MANE Select | NP_000526.2:n.2174+212_2174+213delinsGT | |
| NM_001322003.2:c.1769+212_1769+213delinsGT | NP_001308932.1:n.1769+212_1769+213delinsGT | |
| NM_001322004.2:c.1769+212_1769+213delinsGT | NP_001308933.1:n.1769+212_1769+213delinsGT | |
| NM_001322005.2:c.1769+212_1769+213delinsGT | NP_001308934.1:n.1769+212_1769+213delinsGT | |
| NM_001322006.2:c.2018+212_2018+213delinsGT | NP_001308935.1:n.2018+212_2018+213delinsGT | |
| NM_001322008.2:c.1856+212_1856+213delinsGT | NP_001308937.1:n.1856+212_1856+213delinsGT | |
| NM_001322009.2:c.1769+212_1769+213delinsGT | NP_001308938.1:n.1769+212_1769+213delinsGT | |
| NM_001322010.2:c.1613+212_1613+213delinsGT | NP_001308939.1:n.1613+212_1613+213delinsGT | |
| NM_001322011.2:c.1241+212_1241+213delinsGT | NP_001308940.1:n.1241+212_1241+213delinsGT | |
| NM_001322012.2:c.1241+212_1241+213delinsGT | NP_001308941.1:n.1241+212_1241+213delinsGT | |
| NM_001322013.2:c.1601+212_1601+213delinsGT | NP_001308942.1:n.1601+212_1601+213delinsGT | |
| NM_001322014.2:c.2174+212_2174+213delinsGT | NP_001308943.1:n.2174+212_2174+213delinsGT | |
| NM_001322015.2:c.1865+212_1865+213delinsGT | NP_001308944.1:n.1865+212_1865+213delinsGT | |
| NM_001322007.2:c.1856+212_1856+213delinsGT | NP_001308936.1:n.1856+212_1856+213delinsGT |