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.5986853_5986854delinsAT , CM000669.2:g.5986853_5986854delinsAT | GRCh38 |
| NC_000007.13:g.6026484_6026485delinsAT , CM000669.1:g.6026484_6026485delinsAT | GRCh37 |
| NC_000007.12:g.5993010_5993011delinsAT | NCBI36 |
| NG_008466.1:g.27253_27254delinsAT , LRG_161:g.27253_27254delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1307_*1308delinsAT | ENSP00000514615.2:n.*1307_*1308delinsAT | |
| ENST00000699840.2:c.1908_1909delinsAT | ENSP00000514638.2:p.Gln637Ter | |
| ENST00000699930.2:c.1803_1804delinsAT | ENSP00000514695.2:p.Gln602Ter | |
| ENST00000406569.8:c.1678+233_1678+234delinsAT | ENSP00000514464.1:n.1678+233_1678+234delinsAT | |
| ENST00000644110.2:c.*1505_*1506delinsAT | ENSP00000496392.2:n.*1505_*1506delinsAT | |
| ENST00000699752.1:c.1755_1756delinsAT | ENSP00000514561.1:p.Gln586Ter | |
| ENST00000699753.1:c.*1332_*1333delinsAT | ENSP00000514562.1:n.*1332_*1333delinsAT | |
| ENST00000699754.1:c.1713_1714delinsAT | ENSP00000514563.1:p.Gln572Ter | |
| ENST00000699755.1:c.*1310_*1311delinsAT | ENSP00000514564.1:n.*1310_*1311delinsAT | |
| ENST00000699756.1:c.*1498_*1499delinsAT | ENSP00000514565.1:n.*1498_*1499delinsAT | |
| ENST00000699757.1:c.*1168_*1169delinsAT | ENSP00000514566.1:n.*1168_*1169delinsAT | |
| ENST00000699758.1:c.*1168_*1169delinsAT | ENSP00000514567.1:n.*1168_*1169delinsAT | |
| ENST00000699759.1:n.2765_2766delinsAT | ||
| ENST00000699760.1:c.1593_1594delinsAT | ENSP00000514568.1:p.Gln532Ter | |
| ENST00000699761.1:c.1506_1507delinsAT | ENSP00000514569.1:p.Gln503Ter | |
| ENST00000699762.1:c.1338_1339delinsAT | ENSP00000514570.1:p.Gln447Ter | |
| ENST00000699763.1:c.*1001_*1002delinsAT | ENSP00000514571.1:n.*1001_*1002delinsAT | |
| ENST00000699764.1:c.*229_*230delinsAT | ENSP00000514572.1:n.*229_*230delinsAT | |
| ENST00000699765.1:c.*1007_*1008delinsAT | ENSP00000514573.1:n.*1007_*1008delinsAT | |
| ENST00000699766.1:c.1911_1912delinsAT | ENSP00000514574.1:p.Gln638Ter | |
| ENST00000699767.1:c.1911_1912delinsAT | ENSP00000514575.1:p.Gln638Ter | |
| ENST00000699768.1:c.1911_1912delinsAT | ENSP00000514576.1:p.Gln638Ter | |
| ENST00000699811.1:c.1506_1507delinsAT | ENSP00000514614.1:p.Gln503Ter | |
| ENST00000699813.1:n.2024_2025delinsAT | ||
| ENST00000699814.1:c.1534_1535delinsAT | ||
| ENST00000699815.1:c.*1442_*1443delinsAT | ENSP00000514616.1:n.*1442_*1443delinsAT | |
| ENST00000699816.1:c.*801_*802delinsAT | ENSP00000514617.1:n.*801_*802delinsAT | |
| ENST00000699817.1:c.*1505_*1506delinsAT | ENSP00000514618.1:n.*1505_*1506delinsAT | |
| ENST00000699818.1:c.1506_1507delinsAT | ENSP00000514619.1:p.Gln503Ter | |
| ENST00000699819.1:c.*1068_*1069delinsAT | ENSP00000514620.1:n.*1068_*1069delinsAT | |
| ENST00000699820.1:c.1144+2946_1144+2947delinsAT | ENSP00000514621.1:n.1144+2946_1144+2947delinsAT | |
| ENST00000699821.1:c.1506_1507delinsAT | ENSP00000514622.1:p.Gln503Ter | |
| ENST00000699822.1:c.*1363_*1364delinsAT | ENSP00000514623.1:n.*1363_*1364delinsAT | |
| ENST00000699823.1:c.1506_1507delinsAT | ENSP00000514624.1:p.Gln503Ter | |
| ENST00000699824.1:c.*1414_*1415delinsAT | ENSP00000514625.1:n.*1414_*1415delinsAT | |
| ENST00000699825.1:c.1350_1351delinsAT | ENSP00000514626.1:p.Gln451Ter | |
| ENST00000699826.1:c.*1310_*1311delinsAT | ENSP00000514627.1:n.*1310_*1311delinsAT | |
| ENST00000699827.1:c.1743_1744delinsAT | ENSP00000514628.1:p.Gln582Ter | |
| ENST00000699828.1:c.*1001_*1002delinsAT | ENSP00000514629.1:n.*1001_*1002delinsAT | |
| ENST00000699833.1:n.3683_3684delinsAT | ||
| ENST00000699837.1:c.1506_1507delinsAT | ENSP00000514635.1:p.Gln503Ter | |
| ENST00000699838.1:c.*1811_*1812delinsAT | ENSP00000514636.1:n.*1811_*1812delinsAT | |
| ENST00000699839.1:c.2097_2098delinsAT | ENSP00000514637.1:p.Gln700Ter | |
| ENST00000699916.1:c.*1168_*1169delinsAT | ENSP00000514684.1:n.*1168_*1169delinsAT | |
| ENST00000699917.1:c.*1360_*1361delinsAT | ENSP00000514685.1:n.*1360_*1361delinsAT | |
| ENST00000699918.1:c.*1412_*1413delinsAT | ENSP00000514686.1:n.*1412_*1413delinsAT | |
| ENST00000699919.1:c.*1498_*1499delinsAT | ENSP00000514687.1:n.*1498_*1499delinsAT | |
| ENST00000699920.1:c.*1547_*1548delinsAT | ENSP00000514688.1:n.*1547_*1548delinsAT | |
| ENST00000699928.1:c.989-3863_989-3862delinsAT | ENSP00000514693.1:n.989-3863_989-3862delinsAT | |
| ENST00000699951.1:c.*1007_*1008delinsAT | ENSP00000514706.1:n.*1007_*1008delinsAT | |
| ENST00000699952.1:c.803+10472_803+10473delinsAT | ENSP00000514707.1:n.803+10472_803+10473delinsAT | |
| ENST00000265849.12:c.1911_1912delinsAT MANE Select | ENSP00000265849.7:p.Gln638Ter | |
| ENST00000642292.1:c.1506_1507delinsAT | ENSP00000495524.1:p.Gln503Ter | |
| ENST00000642456.1:c.1506_1507delinsAT | ENSP00000493814.1:p.Gln503Ter | |
| ENST00000643595.1:c.*1310_*1311delinsAT | ENSP00000494497.1:n.*1310_*1311delinsAT | |
| ENST00000644110.1:c.1593_1594delinsAT | ENSP00000496392.1:p.Gln532Ter | |
| ENST00000265849.11:c.1911_1912delinsAT | ENSP00000265849.7:p.Gln638Ter | |
| ENST00000382321.5:c.804-3863_804-3862delinsAT | ENSP00000371758.4:n.804-3863_804-3862delinsAT | |
| ENST00000406569.7:n.1678+233_1678+234delinsAT | ||
| ENST00000441476.6:c.1593_1594delinsAT | ENSP00000392843.2:p.Gln532Ter | |
| ENST00000469652.1:n.63-3949_63-3948delinsAT | ||
| NM_000535.5:c.1911_1912delinsAT , LRG_161t1:c.1911_1912delinsAT | NP_000526.1:p.Gln638Ter | |
| NR_003085.2:n.1993_1994delinsAT | ||
| XM_006715742.2:c.1905_1906delinsAT | XP_006715805.1:p.Gln636Ter | |
| XM_006715744.2:c.978_979delinsAT | XP_006715807.1:p.Gln327Ter | |
| XM_011515427.1:c.1956_1957delinsAT | XP_011513729.1:p.Gln653Ter | |
| XM_011515428.1:c.1800_1801delinsAT | XP_011513730.1:p.Gln601Ter | |
| XM_011515429.1:c.1593_1594delinsAT | XP_011513731.1:p.Gln532Ter | |
| XM_011515430.1:c.1593_1594delinsAT | XP_011513732.1:p.Gln532Ter | |
| NM_000535.6:c.1911_1912delinsAT | NP_000526.2:p.Gln638Ter | |
| NM_001322003.1:c.1506_1507delinsAT | NP_001308932.1:p.Gln503Ter | |
| NM_001322004.1:c.1506_1507delinsAT | NP_001308933.1:p.Gln503Ter | |
| NM_001322005.1:c.1506_1507delinsAT | NP_001308934.1:p.Gln503Ter | |
| NM_001322006.1:c.1755_1756delinsAT | NP_001308935.1:p.Gln586Ter | |
| NM_001322007.1:c.1593_1594delinsAT | NP_001308936.1:p.Gln532Ter | |
| NM_001322008.1:c.1593_1594delinsAT | NP_001308937.1:p.Gln532Ter | |
| NM_001322009.1:c.1506_1507delinsAT | NP_001308938.1:p.Gln503Ter | |
| NM_001322010.1:c.1350_1351delinsAT | NP_001308939.1:p.Gln451Ter | |
| NM_001322011.1:c.978_979delinsAT | NP_001308940.1:p.Gln327Ter | |
| NM_001322012.1:c.978_979delinsAT | NP_001308941.1:p.Gln327Ter | |
| NM_001322013.1:c.1338_1339delinsAT | NP_001308942.1:p.Gln447Ter | |
| NM_001322014.1:c.1911_1912delinsAT | NP_001308943.1:p.Gln638Ter | |
| NM_001322015.1:c.1602_1603delinsAT | NP_001308944.1:p.Gln535Ter | |
| NR_136154.1:n.1998_1999delinsAT | ||
| XM_006715744.4:c.978_979delinsAT | XP_006715807.1:p.Gln327Ter | |
| XM_017012342.2:c.978_979delinsAT | XP_016867831.1:p.Gln327Ter | |
| XM_024446800.1:c.1350_1351delinsAT | XP_024302568.1:p.Gln451Ter | |
| NM_000535.7:c.1911_1912delinsAT MANE Select | NP_000526.2:p.Gln638Ter | |
| NM_001322003.2:c.1506_1507delinsAT | NP_001308932.1:p.Gln503Ter | |
| NM_001322004.2:c.1506_1507delinsAT | NP_001308933.1:p.Gln503Ter | |
| NM_001322005.2:c.1506_1507delinsAT | NP_001308934.1:p.Gln503Ter | |
| NM_001322006.2:c.1755_1756delinsAT | NP_001308935.1:p.Gln586Ter | |
| NM_001322008.2:c.1593_1594delinsAT | NP_001308937.1:p.Gln532Ter | |
| NM_001322009.2:c.1506_1507delinsAT | NP_001308938.1:p.Gln503Ter | |
| NM_001322010.2:c.1350_1351delinsAT | NP_001308939.1:p.Gln451Ter | |
| NM_001322011.2:c.978_979delinsAT | NP_001308940.1:p.Gln327Ter | |
| NM_001322012.2:c.978_979delinsAT | NP_001308941.1:p.Gln327Ter | |
| NM_001322013.2:c.1338_1339delinsAT | NP_001308942.1:p.Gln447Ter | |
| NM_001322014.2:c.1911_1912delinsAT | NP_001308943.1:p.Gln638Ter | |
| NM_001322015.2:c.1602_1603delinsAT | NP_001308944.1:p.Gln535Ter | |
| NM_001322007.2:c.1593_1594delinsAT | NP_001308936.1:p.Gln532Ter |