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_000010.11:g.89014128_89014136delinsGAG , CM000672.2:g.89014128_89014136delinsGAG | GRCh38 |
| NC_000010.10:g.90773885_90773893delinsGAG , CM000672.1:g.90773885_90773893delinsGAG | GRCh37 |
| NC_000010.9:g.90763865_90763873delinsGAG | NCBI36 |
| NG_009089.2:g.28598_28606delinsGAG , LRG_134:g.28598_28606delinsGAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313771.10:n.995_1003delinsGAG | ||
| ENST00000355740.8:c.*9_*17delinsGAG | ENSP00000347979.3:n.*9_*17delinsGAG | |
| ENST00000357339.7:c.623_631delinsGAG | ENSP00000349896.2:p.Leu208Ter | |
| ENST00000371857.8:n.2231_2239delinsGAG | ||
| ENST00000460510.6:c.-32_-24delinsGAG | ENSP00000512812.1:n.-32_-24delinsGAG | |
| ENST00000466081.6:n.2335_2343delinsGAG | ||
| ENST00000477270.6:c.731_739delinsGAG | ENSP00000512813.1:p.Leu244Ter | |
| ENST00000479522.6:c.*115_*123delinsGAG | ENSP00000424113.1:n.*115_*123delinsGAG | |
| ENST00000484444.6:c.*127_*135delinsGAG | ENSP00000420975.1:n.*127_*135delinsGAG | |
| ENST00000488877.6:c.577_585delinsGAG | ENSP00000425159.1:n.577_585delinsGAG | |
| ENST00000492756.7:c.*115_*123delinsGAG | ENSP00000422453.1:n.*115_*123delinsGAG | |
| ENST00000494799.6:c.-32_-24delinsGAG | ENSP00000512834.1:n.-32_-24delinsGAG | |
| ENST00000562983.3:c.-32_-24delinsGAG | ENSP00000512845.1:n.-32_-24delinsGAG | |
| ENST00000612663.6:c.*88_*96delinsGAG | ENSP00000477997.3:n.*88_*96delinsGAG | |
| ENST00000640140.2:n.831_839delinsGAG | ||
| ENST00000640250.2:n.185_193delinsGAG | ||
| ENST00000640681.2:n.790_798delinsGAG | ||
| ENST00000696723.1:n.4319_4327delinsGAG | ||
| ENST00000696741.1:n.2324_2332delinsGAG | ||
| ENST00000696742.1:n.2051_2059delinsGAG | ||
| ENST00000696743.1:n.3454_3462delinsGAG | ||
| ENST00000696744.1:n.725_733delinsGAG | ||
| ENST00000696767.1:n.1020_1028delinsGAG | ||
| ENST00000696768.1:c.*9_*17delinsGAG | ENSP00000512859.1:n.*9_*17delinsGAG | |
| ENST00000696769.1:n.2375_2383delinsGAG | ||
| ENST00000696771.1:c.-32_-24delinsGAG | ENSP00000512860.1:n.-32_-24delinsGAG | |
| ENST00000696772.1:n.2289_2297delinsGAG | ||
| ENST00000696773.1:n.2028_2036delinsGAG | ||
| ENST00000696774.1:n.5796_5804delinsGAG | ||
| ENST00000696776.1:c.779_787delinsGAG | ENSP00000512861.1:p.Leu260Ter | |
| ENST00000696777.1:n.2094_2102delinsGAG | ||
| ENST00000696778.1:n.1122_1130delinsGAG | ||
| ENST00000696779.1:c.293_301delinsGAG | ENSP00000512862.1:p.Leu98Ter | |
| ENST00000696780.1:c.716_724delinsGAG | ENSP00000512863.1:p.Leu239Ter | |
| ENST00000696781.1:c.431_439delinsGAG | ENSP00000512864.1:p.Leu144Ter | |
| ENST00000696782.1:c.*88_*96delinsGAG | ENSP00000512865.1:n.*88_*96delinsGAG | |
| ENST00000696783.1:n.2554_2562delinsGAG | ||
| ENST00000696992.1:n.1803_1811delinsGAG | ||
| ENST00000696995.1:n.4215_4223delinsGAG | ||
| ENST00000696996.1:n.2128_2136delinsGAG | ||
| ENST00000696997.1:c.*316_*324delinsGAG | ENSP00000513028.1:n.*316_*324delinsGAG | |
| ENST00000696998.1:n.1940_1948delinsGAG | ||
| ENST00000696999.1:c.-32_-24delinsGAG | ENSP00000513029.1:n.-32_-24delinsGAG | |
| ENST00000697035.1:c.*19_*27delinsGAG | ENSP00000513059.1:n.*19_*27delinsGAG | |
| ENST00000697036.1:c.*102_*110delinsGAG | ENSP00000513060.1:n.*102_*110delinsGAG | |
| ENST00000697037.1:n.721_729delinsGAG | ||
| ENST00000697093.1:n.2922_2930delinsGAG | ||
| ENST00000697094.1:n.3269_3277delinsGAG | ||
| ENST00000697095.1:c.*1887_*1895delinsGAG | ENSP00000513104.1:n.*1887_*1895delinsGAG | |
| ENST00000697096.1:n.1819_1827delinsGAG | ||
| ENST00000697097.1:c.-32_-24delinsGAG | ENSP00000513105.1:n.-32_-24delinsGAG | |
| ENST00000562983.2:n.872_880delinsGAG | ||
| ENST00000690268.1:c.767_775delinsGAG | ENSP00000509810.1:p.Leu256Ter | |
| ENST00000355740.7:c.*12_*20delinsGAG | ENSP00000347979.3:n.*12_*20delinsGAG | |
| ENST00000612663.5:c.*88_*96delinsGAG | ENSP00000477997.3:n.*88_*96delinsGAG | |
| ENST00000640140.1:n.858_866delinsGAG | ||
| ENST00000640250.1:n.185_193delinsGAG | ||
| ENST00000640681.1:n.807_815delinsGAG | ||
| ENST00000652046.1:c.686_694delinsGAG MANE Select | ENSP00000498466.1:p.Leu229Ter | |
| ENST00000313771.9:n.995_1003delinsGAG | ||
| ENST00000352159.8:c.*3_*11delinsGAG | ENSP00000345601.4:n.*3_*11delinsGAG | |
| ENST00000355279.2:c.661_669delinsGAG | ENSP00000347426.2:n.[c.661_669delinsGAG;T... | |
| ENST00000355740.6:c.686_694delinsGAG | ENSP00000347979.2:p.Leu229Ter | |
| ENST00000357339.6:c.623_631delinsGAG | ENSP00000349896.2:p.Leu208Ter | |
| ENST00000479522.5:c.*115_*123delinsGAG | ENSP00000424113.1:n.*115_*123delinsGAG | |
| ENST00000484444.5:c.*127_*135delinsGAG | ENSP00000420975.1:n.*127_*135delinsGAG | |
| ENST00000488877.5:c.*127_*135delinsGAG | ENSP00000425159.1:n.*127_*135delinsGAG | |
| ENST00000492756.5:c.514_522delinsGAG | ENSP00000422453.1:n.514_522delinsGAG | |
| ENST00000494410.5:c.*44_*52delinsGAG | ENSP00000423755.1:n.*44_*52delinsGAG | |
| ENST00000494799.5:n.593_601delinsGAG | ||
| ENST00000612663.4:c.*33_*41delinsGAG | ENSP00000477997.2:n.*33_*41delinsGAG | |
| ENST00000615406.4:c.686_694delinsGAG | ENSP00000484575.1:p.Leu229Ter | |
| ENST00000626542.2:c.686_694delinsGAG | ENSP00000485876.1:p.Leu229Ter | |
| NM_000043.4:c.686_694delinsGAG , LRG_134t1:c.686_694delinsGAG | NP_000034.1:p.Leu229Ter | |
| NM_152871.2:c.623_631delinsGAG | NP_690610.1:p.Leu208Ter | |
| NM_152872.2:c.661_*6delinsGAG | NP_690611.1:n.[c.661_*6delinsGAG;Ter221Gl... | |
| NR_028033.2:n.860_868delinsGAG | ||
| NR_028034.2:n.722_730delinsGAG | ||
| NR_028035.2:n.785_793delinsGAG | ||
| NR_028036.2:n.923_931delinsGAG | ||
| XM_006717819.2:c.767_775delinsGAG | XP_006717882.1:p.Leu256Ter | |
| XM_011539764.1:c.848_856delinsGAG | XP_011538066.1:p.Leu283Ter | |
| XM_011539765.1:c.785_793delinsGAG | XP_011538067.1:p.Leu262Ter | |
| XM_011539766.1:c.767_775delinsGAG | XP_011538068.1:p.Leu256Ter | |
| XM_011539767.1:c.731_739delinsGAG | XP_011538069.1:p.Leu244Ter | |
| XR_945732.1:n.754_762delinsGAG | ||
| XR_945733.1:n.691_699delinsGAG | ||
| NM_000043.5:c.686_694delinsGAG | NP_000034.1:p.Leu229Ter | |
| NM_001320619.1:c.*9_*17delinsGAG | NP_001307548.1:n.*9_*17delinsGAG | |
| NM_152871.3:c.623_631delinsGAG | NP_690610.1:p.Leu208Ter | |
| NM_152872.3:c.661_*6delinsGAG | NP_690611.1:n.[c.661_*6delinsGAG;Ter221Gl... | |
| NR_028033.3:n.832_840delinsGAG | ||
| NR_028034.3:n.694_702delinsGAG | ||
| NR_028035.3:n.757_765delinsGAG | ||
| NR_028036.3:n.895_903delinsGAG | ||
| NR_135313.1:n.812_820delinsGAG | ||
| NR_135314.1:n.995_1003delinsGAG | ||
| NR_135315.1:n.748_756delinsGAG | ||
| XM_006717819.3:c.767_775delinsGAG | XP_006717882.1:p.Leu256Ter | |
| XM_011539764.2:c.848_856delinsGAG | XP_011538066.1:p.Leu283Ter | |
| XM_011539765.2:c.785_793delinsGAG | XP_011538067.1:p.Leu262Ter | |
| XM_011539766.2:c.767_775delinsGAG | XP_011538068.1:p.Leu256Ter | |
| XM_011539767.3:c.731_739delinsGAG | XP_011538069.1:p.Leu244Ter | |
| XR_945732.3:n.754_762delinsGAG | ||
| XR_945733.2:n.691_699delinsGAG | ||
| NM_000043.6:c.686_694delinsGAG MANE Select | NP_000034.1:p.Leu229Ter | |
| NM_001320619.2:c.*9_*17delinsGAG | NP_001307548.1:n.*9_*17delinsGAG | |
| NM_152871.4:c.623_631delinsGAG | NP_690610.1:p.Leu208Ter | |
| NM_152872.4:c.661_*6delinsGAG | NP_690611.1:n.[c.661_*6delinsGAG;Ter221Gl... | |
| NR_028033.4:n.593_601delinsGAG | ||
| NR_028034.4:n.455_463delinsGAG | ||
| NR_028035.4:n.518_526delinsGAG | ||
| NR_028036.4:n.656_664delinsGAG | ||
| NR_135313.2:n.573_581delinsGAG | ||
| NR_135314.2:n.852_860delinsGAG | ||
| NR_135315.2:n.605_613delinsGAG |