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.89014091A= , CM000672.2:g.89014091A= | GRCh38 |
| NC_000010.10:g.90773848A= , CM000672.1:g.90773848A= | GRCh37 |
| NC_000010.9:g.90763828A= | NCBI36 |
| NG_009089.2:g.28561A= , LRG_134:g.28561A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313771.10:n.986-28A= | ||
| ENST00000355740.8:c.594-28A= | ENSP00000347979.3:n.594-28A= | |
| ENST00000357339.7:c.614-28A= | ENSP00000349896.2:n.614-28A= | |
| ENST00000371857.8:n.2222-28A= | ||
| ENST00000460510.6:c.-41-28A= | ENSP00000512812.1:n.-41-28A= | |
| ENST00000466081.6:n.2326-28A= | ||
| ENST00000477270.6:c.722-28A= | ENSP00000512813.1:n.722-28A= | |
| ENST00000479522.6:c.*106-28A= | ENSP00000424113.1:n.*106-28A= | |
| ENST00000484444.6:c.*118-28A= | ENSP00000420975.1:n.*118-28A= | |
| ENST00000488877.6:c.568-28A= | ENSP00000425159.1:n.568-28A= | |
| ENST00000492756.7:c.*106-28A= | ENSP00000422453.1:n.*106-28A= | |
| ENST00000494799.6:c.-41-28A= | ENSP00000512834.1:n.-41-28A= | |
| ENST00000562983.3:c.-41-28A= | ENSP00000512845.1:n.-41-28A= | |
| ENST00000612663.6:c.*79-28A= | ENSP00000477997.3:n.*79-28A= | |
| ENST00000640140.2:n.822-28A= | ||
| ENST00000640250.2:n.176-28A= | ||
| ENST00000640681.2:n.781-28A= | ||
| ENST00000696723.1:n.4310-28A= | ||
| ENST00000696741.1:n.2315-28A= | ||
| ENST00000696742.1:n.2042-28A= | ||
| ENST00000696743.1:n.3445-28A= | ||
| ENST00000696744.1:n.716-28A= | ||
| ENST00000696767.1:n.1011-28A= | ||
| ENST00000696768.1:c.531-28A= | ENSP00000512859.1:n.531-28A= | |
| ENST00000696769.1:n.2366-28A= | ||
| ENST00000696771.1:c.-41-28A= | ENSP00000512860.1:n.-41-28A= | |
| ENST00000696772.1:n.2280-28A= | ||
| ENST00000696773.1:n.2019-28A= | ||
| ENST00000696774.1:n.5759A= | ||
| ENST00000696776.1:c.770-28A= | ENSP00000512861.1:n.770-28A= | |
| ENST00000696777.1:n.2085-28A= | ||
| ENST00000696778.1:n.1113-28A= | ||
| ENST00000696779.1:c.284-28A= | ENSP00000512862.1:n.284-28A= | |
| ENST00000696780.1:c.707-28A= | ENSP00000512863.1:n.707-28A= | |
| ENST00000696781.1:c.422-28A= | ENSP00000512864.1:n.422-28A= | |
| ENST00000696782.1:c.*79-28A= | ENSP00000512865.1:n.*79-28A= | |
| ENST00000696783.1:n.2545-28A= | ||
| ENST00000696992.1:n.1794-28A= | ||
| ENST00000696995.1:n.4178A= | ||
| ENST00000696996.1:n.2119-28A= | ||
| ENST00000696997.1:c.*307-28A= | ENSP00000513028.1:n.*307-28A= | |
| ENST00000696998.1:n.1931-28A= | ||
| ENST00000696999.1:c.-41-28A= | ENSP00000513029.1:n.-41-28A= | |
| ENST00000697035.1:c.*10-28A= | ENSP00000513059.1:n.*10-28A= | |
| ENST00000697036.1:c.*93-28A= | ENSP00000513060.1:n.*93-28A= | |
| ENST00000697037.1:n.712-28A= | ||
| ENST00000697093.1:n.2885A= | ||
| ENST00000697094.1:n.3260-28A= | ||
| ENST00000697095.1:c.*1878-28A= | ENSP00000513104.1:n.*1878-28A= | |
| ENST00000697096.1:n.1810-28A= | ||
| ENST00000697097.1:c.-41-28A= | ENSP00000513105.1:n.-41-28A= | |
| ENST00000562983.2:n.863-28A= | ||
| ENST00000690268.1:c.758-28A= | ENSP00000509810.1:n.758-28A= | |
| ENST00000355740.7:c.*3-28A= | ENSP00000347979.3:n.*3-28A= | |
| ENST00000612663.5:c.*79-28A= | ENSP00000477997.3:n.*79-28A= | |
| ENST00000640140.1:n.849-28A= | ||
| ENST00000640250.1:n.176-28A= | ||
| ENST00000640681.1:n.798-28A= | ||
| ENST00000652046.1:c.677-28A= MANE Select | ENSP00000498466.1:n.677-28A= | |
| ENST00000313771.9:n.986-28A= | ||
| ENST00000352159.8:c.677-9A= | ENSP00000345601.4:n.677-9A= | |
| ENST00000355279.2:c.652-28A= | ENSP00000347426.2:n.652-28A= | |
| ENST00000355740.6:c.677-28A= | ENSP00000347979.2:n.677-28A= | |
| ENST00000357339.6:c.614-28A= | ENSP00000349896.2:n.614-28A= | |
| ENST00000479522.5:c.*106-28A= | ENSP00000424113.1:n.*106-28A= | |
| ENST00000484444.5:c.*118-28A= | ENSP00000420975.1:n.*118-28A= | |
| ENST00000488877.5:c.*118-28A= | ENSP00000425159.1:n.*118-28A= | |
| ENST00000492756.5:c.505-28A= | ENSP00000422453.1:n.505-28A= | |
| ENST00000494410.5:c.*35-28A= | ENSP00000423755.1:n.*35-28A= | |
| ENST00000494799.5:n.584-28A= | ||
| ENST00000612663.4:c.*24-28A= | ENSP00000477997.2:n.*24-28A= | |
| ENST00000615406.4:c.677-28A= | ENSP00000484575.1:n.677-28A= | |
| ENST00000626542.2:c.677-28A= | ENSP00000485876.1:n.677-28A= | |
| NM_000043.4:c.677-28A= , LRG_134t1:c.677-28A= | NP_000034.1:n.677-28A= | |
| NM_152871.2:c.614-28A= | NP_690610.1:n.614-28A= | |
| NM_152872.2:c.652-28A= | NP_690611.1:n.652-28A= | |
| NR_028033.2:n.851-28A= | ||
| NR_028034.2:n.713-28A= | ||
| NR_028035.2:n.776-28A= | ||
| NR_028036.2:n.914-28A= | ||
| XM_006717819.2:c.758-28A= | XP_006717882.1:n.758-28A= | |
| XM_011539764.1:c.839-28A= | XP_011538066.1:n.839-28A= | |
| XM_011539765.1:c.776-28A= | XP_011538067.1:n.776-28A= | |
| XM_011539766.1:c.758-28A= | XP_011538068.1:n.758-28A= | |
| XM_011539767.1:c.722-28A= | XP_011538069.1:n.722-28A= | |
| XR_945732.1:n.745-28A= | ||
| XR_945733.1:n.682-28A= | ||
| NM_000043.5:c.677-28A= | NP_000034.1:n.677-28A= | |
| NM_001320619.1:c.594-28A= | NP_001307548.1:n.594-28A= | |
| NM_152871.3:c.614-28A= | NP_690610.1:n.614-28A= | |
| NM_152872.3:c.652-28A= | NP_690611.1:n.652-28A= | |
| NR_028033.3:n.823-28A= | ||
| NR_028034.3:n.685-28A= | ||
| NR_028035.3:n.748-28A= | ||
| NR_028036.3:n.886-28A= | ||
| NR_135313.1:n.803-28A= | ||
| NR_135314.1:n.986-28A= | ||
| NR_135315.1:n.739-28A= | ||
| XM_006717819.3:c.758-28A= | XP_006717882.1:n.758-28A= | |
| XM_011539764.2:c.839-28A= | XP_011538066.1:n.839-28A= | |
| XM_011539765.2:c.776-28A= | XP_011538067.1:n.776-28A= | |
| XM_011539766.2:c.758-28A= | XP_011538068.1:n.758-28A= | |
| XM_011539767.3:c.722-28A= | XP_011538069.1:n.722-28A= | |
| XR_945732.3:n.745-28A= | ||
| XR_945733.2:n.682-28A= | ||
| NM_000043.6:c.677-28A= MANE Select | NP_000034.1:n.677-28A= | |
| NM_001320619.2:c.594-28A= | NP_001307548.1:n.594-28A= | |
| NM_152871.4:c.614-28A= | NP_690610.1:n.614-28A= | |
| NM_152872.4:c.652-28A= | NP_690611.1:n.652-28A= | |
| NR_028033.4:n.584-28A= | ||
| NR_028034.4:n.446-28A= | ||
| NR_028035.4:n.509-28A= | ||
| NR_028036.4:n.647-28A= | ||
| NR_135313.2:n.564-28A= | ||
| NR_135314.2:n.843-28A= | ||
| NR_135315.2:n.596-28A= |