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_000008.11:g.18071212A= , CM000670.2:g.18071212A= | GRCh38 |
| NC_000008.10:g.17928721A= , CM000670.1:g.17928721A= | GRCh37 |
| NC_000008.9:g.17973001A= | NCBI36 |
| NG_008985.1:g.18787T= | |
| NG_008985.2:g.18787T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381733.9:c.264+88T= | ENSP00000371152.4:n.264+88T= | |
| ENST00000518087.7:c.*52+88T= | ENSP00000490753.1:n.*52+88T= | |
| ENST00000519545.6:n.233+88T= | ||
| ENST00000520781.6:c.216+88T= | ENSP00000427751.1:n.216+88T= | |
| ENST00000523593.6:c.*59+88T= | ENSP00000490700.1:n.*59+88T= | |
| ENST00000635769.1:c.237+88T= | ENSP00000490485.1:n.237+88T= | |
| ENST00000635944.1:c.*52+88T= | ENSP00000490195.1:n.*52+88T= | |
| ENST00000635998.1:c.216+88T= | ENSP00000490506.1:n.216+88T= | |
| ENST00000636009.1:c.148+88T= | ENSP00000489988.1:n.148+88T= | |
| ENST00000636033.1:c.*52+88T= | ENSP00000489617.1:n.*52+88T= | |
| ENST00000636050.1:c.*59+88T= | ENSP00000490562.1:n.*59+88T= | |
| ENST00000636128.1:c.216+88T= | ENSP00000489789.1:n.216+88T= | |
| ENST00000636160.1:c.*108+88T= | ENSP00000489651.1:n.*108+88T= | |
| ENST00000636171.1:c.216+88T= | ENSP00000489761.1:n.216+88T= | |
| ENST00000636269.1:c.21+88T= | ENSP00000490738.1:n.21+88T= | |
| ENST00000636299.1:c.174-1340T= | ENSP00000490202.1:n.174-1340T= | |
| ENST00000636435.1:n.300+88T= | ||
| ENST00000636455.1:c.264+88T= | ENSP00000490502.1:n.264+88T= | |
| ENST00000636494.1:c.126-1334T= | ENSP00000490388.1:n.126-1334T= | |
| ENST00000636537.1:c.264+88T= | ENSP00000489914.1:n.264+88T= | |
| ENST00000636577.1:c.216+88T= | ENSP00000490027.1:n.216+88T= | |
| ENST00000636691.1:c.21+88T= | ENSP00000490725.1:n.21+88T= | |
| ENST00000636701.1:c.126-3914T= | ENSP00000489800.1:n.126-3914T= | |
| ENST00000636715.1:c.174-1334T= | ENSP00000490876.1:n.174-1334T= | |
| ENST00000636815.1:c.134-1334T= | ||
| ENST00000636823.1:c.21+88T= | ENSP00000490798.1:n.21+88T= | |
| ENST00000636828.1:n.392+88T= | ||
| ENST00000636920.1:c.*52+88T= | ENSP00000490437.1:n.*52+88T= | |
| ENST00000636997.1:c.216+88T= | ENSP00000490093.1:n.216+88T= | |
| ENST00000637013.1:c.*428+88T= | ENSP00000490596.1:n.*428+88T= | |
| ENST00000637095.1:c.185+119T= | ENSP00000490415.1:n.185+119T= | |
| ENST00000637202.1:c.126-1334T= | ENSP00000490129.1:n.126-1334T= | |
| ENST00000637244.1:c.*734+88T= | ENSP00000490188.1:n.*734+88T= | |
| ENST00000637429.1:c.*428+88T= | ENSP00000490522.1:n.*428+88T= | |
| ENST00000637484.1:c.*253+88T= | ENSP00000490837.1:n.*253+88T= | |
| ENST00000637528.1:c.216+88T= | ENSP00000490801.1:n.216+88T= | |
| ENST00000637561.1:c.216+88T= | ENSP00000490536.1:n.216+88T= | |
| ENST00000637603.1:c.216+88T= | ENSP00000489979.1:n.216+88T= | |
| ENST00000637609.1:n.249+88T= | ||
| ENST00000637636.1:c.216+88T= | ENSP00000490112.1:n.216+88T= | |
| ENST00000637638.1:c.216+88T= | ENSP00000490774.1:n.216+88T= | |
| ENST00000637718.1:c.21+88T= | ENSP00000490133.1:n.21+88T= | |
| ENST00000637790.2:c.216+88T= MANE Select | ENSP00000490272.1:n.216+88T= | |
| ENST00000637792.1:c.264+88T= | ENSP00000490423.1:n.264+88T= | |
| ENST00000637805.1:c.*52+88T= | ENSP00000489884.1:n.*52+88T= | |
| ENST00000637872.1:c.21+88T= | ENSP00000490432.1:n.21+88T= | |
| ENST00000637898.1:n.246+88T= | ||
| ENST00000637922.1:c.21+88T= | ENSP00000490071.1:n.21+88T= | |
| ENST00000637991.1:c.264+88T= | ENSP00000489901.1:n.264+88T= | |
| ENST00000638069.1:n.272+88T= | ||
| ENST00000262097.10:c.216+88T= | ENSP00000262097.6:n.216+88T= | |
| ENST00000314146.10:c.285+88T= | ENSP00000326970.10:n.285+88T= | |
| ENST00000381733.8:c.264+88T= | ENSP00000371152.4:n.264+88T= | |
| ENST00000518087.6:n.264+88T= | ||
| ENST00000519468.5:n.222+88T= | ||
| ENST00000519545.5:n.230+88T= | ||
| ENST00000520781.5:c.216+88T= | ENSP00000427751.1:n.216+88T= | |
| ENST00000523593.5:n.157-3914T= | ||
| NM_001127505.1:c.285+88T= | NP_001120977.1:n.285+88T= | |
| NM_001127505.2:c.285+88T= | NP_001120977.1:n.285+88T= | |
| NM_004315.4:c.264+88T= | NP_004306.3:n.264+88T= | |
| NM_004315.5:c.264+88T= | NP_004306.3:n.264+88T= | |
| NM_177924.3:c.216+88T= | NP_808592.2:n.216+88T= | |
| NM_177924.4:c.216+88T= | NP_808592.2:n.216+88T= | |
| XM_005273504.2:c.150+88T= | XP_005273561.1:n.150+88T= | |
| NM_001363743.1:c.21+88T= | NP_001350672.1:n.21+88T= | |
| XM_005273504.3:c.150+88T= | XP_005273561.1:n.150+88T= | |
| NM_177924.5:c.216+88T= MANE Select | NP_808592.2:n.216+88T= | |
| NM_001127505.3:c.285+88T= | NP_001120977.1:n.285+88T= | |
| NM_001363743.2:c.21+88T= | NP_001350672.1:n.21+88T= | |
| NM_004315.6:c.264+88T= | NP_004306.3:n.264+88T= |