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_000020.11:g.44626636C= , CM000682.2:g.44626636C= | GRCh38 |
| NC_000020.10:g.43255277C= , CM000682.1:g.43255277C= | GRCh37 |
| NC_000020.9:g.42688691C= | NCBI36 |
| NG_007385.1:g.30100G= , LRG_16:g.30100G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.310-37G= | ||
| ENST00000536076.2:c.66-37G= | ENSP00000512234.1:n.66-37G= | |
| ENST00000536532.6:c.219-37G= | ENSP00000440946.1:n.219-37G= | |
| ENST00000537820.2:c.219-37G= | ENSP00000441818.1:n.219-37G= | |
| ENST00000539235.6:c.218+2411G= | ENSP00000446464.1:n.218+2411G= | |
| ENST00000695889.1:c.218+2411G= | ENSP00000512240.1:n.218+2411G= | |
| ENST00000695890.1:n.1985G= | ||
| ENST00000695891.1:c.218+2411G= | ENSP00000512241.1:n.218+2411G= | |
| ENST00000695927.1:c.297-37G= | ENSP00000512270.1:n.297-37G= | |
| ENST00000695949.1:c.216-37G= | ENSP00000512281.1:n.216-37G= | |
| ENST00000695957.1:c.219-37G= | ENSP00000512286.1:n.219-37G= | |
| ENST00000695991.1:c.216+2413G= | ENSP00000512314.1:n.216+2413G= | |
| ENST00000695992.1:c.219-37G= | ENSP00000512315.1:n.219-37G= | |
| ENST00000695993.1:c.219-37G= | ENSP00000512316.1:n.219-37G= | |
| ENST00000695994.1:c.219-37G= | ENSP00000512317.1:n.219-37G= | |
| ENST00000695995.1:c.216+2413G= | ENSP00000512318.1:n.216+2413G= | |
| ENST00000695996.1:n.290-37G= | ||
| ENST00000695997.1:n.290-37G= | ||
| ENST00000696003.1:n.311-37G= | ||
| ENST00000696004.1:n.311-37G= | ||
| ENST00000696006.1:c.219-37G= | ENSP00000512325.1:n.219-37G= | |
| ENST00000696007.1:c.186-37G= | ENSP00000512326.1:n.186-37G= | |
| ENST00000696009.1:n.330-37G= | ||
| ENST00000696017.1:c.216-37G= | ENSP00000512333.1:n.216-37G= | |
| ENST00000696034.1:c.219-37G= | ENSP00000512343.1:n.219-37G= | |
| ENST00000696035.1:n.292G= | ||
| ENST00000696036.1:n.872G= | ||
| ENST00000696037.1:n.1859G= | ||
| ENST00000696038.1:c.217-37G= | ENSP00000512344.1:n.217-37G= | |
| ENST00000696039.1:n.507-37G= | ||
| ENST00000696058.1:c.219-37G= | ENSP00000512361.1:n.219-37G= | |
| ENST00000696059.1:c.*164-37G= | ENSP00000512362.1:n.*164-37G= | |
| ENST00000696060.1:c.219-37G= | ENSP00000512363.1:n.219-37G= | |
| ENST00000696061.1:c.216-37G= | ENSP00000512364.1:n.216-37G= | |
| ENST00000696062.1:c.282-37G= | ENSP00000512365.1:n.282-37G= | |
| ENST00000696063.1:c.294-37G= | ENSP00000512366.1:n.294-37G= | |
| ENST00000696064.1:c.66-37G= | ENSP00000512367.1:n.66-37G= | |
| ENST00000696065.1:c.65+2411G= | ENSP00000512368.1:n.65+2411G= | |
| ENST00000696075.1:c.*189-37G= | ENSP00000512374.1:n.*189-37G= | |
| ENST00000696076.1:c.219-37G= | ENSP00000512375.1:n.219-37G= | |
| ENST00000696077.1:c.216-37G= | ENSP00000512376.1:n.216-37G= | |
| ENST00000696078.1:c.219-37G= | ENSP00000512377.1:n.219-37G= | |
| ENST00000696079.1:c.219-37G= | ENSP00000512378.1:n.219-37G= | |
| ENST00000696080.1:c.219-37G= | ENSP00000512379.1:n.219-37G= | |
| ENST00000696082.1:c.297-37G= | ENSP00000512380.1:n.297-37G= | |
| ENST00000696084.1:n.320-37G= | ||
| ENST00000696104.1:c.219-37G= | ENSP00000512399.1:n.219-37G= | |
| ENST00000696105.1:c.219-37G= | ENSP00000512400.1:n.219-37G= | |
| ENST00000372874.9:c.219-37G= MANE Select | ENSP00000361965.4:n.219-37G= | |
| ENST00000372874.8:c.219-37G= | ENSP00000361965.4:n.219-37G= | |
| ENST00000492931.5:n.303-37G= | ||
| ENST00000536076.1:n.399-37G= | ||
| ENST00000536532.5:c.219-37G= | ENSP00000440946.1:n.219-37G= | |
| ENST00000537820.1:c.219-37G= | ENSP00000441818.1:n.219-37G= | |
| ENST00000539235.5:c.218+2411G= | ENSP00000446464.1:n.218+2411G= | |
| ENST00000545776.5:n.273-37G= | ||
| NM_000022.2:c.219-37G= , LRG_16t1:c.219-37G= | NP_000013.2:n.219-37G= | |
| XM_005260236.2:c.219-37G= | XP_005260293.1:n.219-37G= | |
| XM_011528478.1:c.-71-37G= | XP_011526780.1:n.-71-37G= | |
| XM_011528479.1:c.-71-37G= | XP_011526781.1:n.-71-37G= | |
| XR_244129.1:n.273-37G= | ||
| NM_000022.3:c.219-37G= | NP_000013.2:n.219-37G= | |
| NM_001322050.1:c.-71-37G= | NP_001308979.1:n.-71-37G= | |
| NM_001322051.1:c.219-37G= | NP_001308980.1:n.219-37G= | |
| NR_136160.1:n.370-37G= | ||
| NM_000022.4:c.219-37G= MANE Select | NP_000013.2:n.219-37G= | |
| NM_001322050.2:c.-71-37G= | NP_001308979.1:n.-71-37G= | |
| NM_001322051.2:c.219-37G= | NP_001308980.1:n.219-37G= | |
| NR_136160.2:n.311-37G= |