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_000002.12:g.227008113_227008133delinsGGGCCTCGCATACCGCACAGC , CM000664.2:g.227008113_227008133delinsGGGCCTCGCATACCGCACAGC | GRCh38 |
| NC_000002.11:g.227872829_227872849delinsGGGCCTCGCATACCGCACAGC , CM000664.1:g.227872829_227872849delinsGGGCCTCGCATACCGCACAGC | GRCh37 |
| NC_000002.10:g.227581073_227581093delinsGGGCCTCGCATACCGCACAGC | NCBI36 |
| NG_011592.1:g.161427_161447delinsGCTGTGCGGTATGCGAGGCCC , LRG_231:g.161427_161447delinsGCTGTGCGGTATGCGAGGCCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682098.1:c.296_316delinsGCTGTGCGGTATGCGAGGCCC | ENSP00000508331.1:p.Arg99= | |
| ENST00000396625.5:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC MANE Select | ENSP00000379866.3:p.Arg1565= | |
| ENST00000396625.3:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | ENSP00000379866.3:p.Arg1565= | |
| NM_000092.4:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC , LRG_231t1:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | NP_000083.3:p.Arg1565= | |
| XM_005246281.2:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_005246338.1:p.Arg1565= | |
| XM_005246282.2:c.4139_4159delinsGCTGTGCGGTATGCGAGGCCC | XP_005246339.1:p.Arg1380= | |
| XM_006712246.2:c.4505_4525delinsGCTGTGCGGTATGCGAGGCCC | XP_006712309.1:p.Arg1502= | |
| XM_006712249.2:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_006712312.1:p.Arg1565= | |
| XM_006712252.2:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_006712315.1:n.4216+13915_4216+13935del... | |
| XM_011510557.1:c.4613_4633delinsGCTGTGCGGTATGCGAGGCCC | XP_011508859.1:p.Arg1538= | |
| XM_011510558.1:c.4586_4606delinsGCTGTGCGGTATGCGAGGCCC | XP_011508860.1:p.Arg1529= | |
| XM_011510559.1:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_011508861.1:p.Arg1565= | |
| XM_011510560.1:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_011508862.1:p.Arg1565= | |
| XM_011510561.1:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_011508863.1:p.Arg1565= | |
| XM_011510562.1:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_011508864.1:p.Arg1565= | |
| XM_011510563.1:c.*27_*47delinsGCTGTGCGGTATGCGAGGCCC | XP_011508865.1:n.*27_*47delinsGCTGTGCGGTA... | |
| XM_011510564.1:c.*27_*47delinsGCTGTGCGGTATGCGAGGCCC | XP_011508866.1:n.*27_*47delinsGCTGTGCGGTA... | |
| XM_011510565.1:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508867.1:n.4216+13915_4216+13935del... | |
| XM_011510566.1:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508868.1:n.4216+13915_4216+13935del... | |
| XM_011510567.1:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508869.1:n.4216+13915_4216+13935del... | |
| XM_011510569.1:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508871.1:n.4216+13915_4216+13935del... | |
| XM_011510570.1:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508872.1:n.4216+13915_4216+13935del... | |
| XM_011510571.1:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508873.1:n.4216+13915_4216+13935del... | |
| XM_011510572.1:c.3020_3040delinsGCTGTGCGGTATGCGAGGCCC | XP_011508874.1:p.Arg1007= | |
| XR_922837.1:n.5004_5024delinsGCTGTGCGGTATGCGAGGCCC | ||
| XR_922838.1:n.5004_5024delinsGCTGTGCGGTATGCGAGGCCC | ||
| XR_922839.1:n.4526+13915_4526+13935delinsGCTGTGCGGTATGCGAGGCCC | ||
| XR_922840.1:n.4526+13915_4526+13935delinsGCTGTGCGGTATGCGAGGCCC | ||
| XM_005246281.3:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_005246338.1:p.Arg1565= | |
| XM_005246282.3:c.4139_4159delinsGCTGTGCGGTATGCGAGGCCC | XP_005246339.1:p.Arg1380= | |
| XM_006712246.3:c.4505_4525delinsGCTGTGCGGTATGCGAGGCCC | XP_006712309.1:p.Arg1502= | |
| XM_011510557.2:c.4613_4633delinsGCTGTGCGGTATGCGAGGCCC | XP_011508859.1:p.Arg1538= | |
| XM_011510558.2:c.4586_4606delinsGCTGTGCGGTATGCGAGGCCC | XP_011508860.1:p.Arg1529= | |
| XM_011510559.2:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_011508861.1:p.Arg1565= | |
| XM_011510560.2:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_011508862.1:p.Arg1565= | |
| XM_011510561.2:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_011508863.1:p.Arg1565= | |
| XM_011510562.2:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_011508864.1:p.Arg1565= | |
| XM_011510565.2:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508867.1:n.4216+13915_4216+13935del... | |
| XM_011510566.2:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508868.1:n.4216+13915_4216+13935del... | |
| XM_011510567.2:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508869.1:n.4216+13915_4216+13935del... | |
| XM_011510569.2:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508871.1:n.4216+13915_4216+13935del... | |
| XM_011510570.2:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_011508872.1:n.4216+13915_4216+13935del... | |
| XM_011510572.3:c.3020_3040delinsGCTGTGCGGTATGCGAGGCCC | XP_011508874.1:p.Arg1007= | |
| XM_017003296.1:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_016858785.1:p.Arg1565= | |
| XM_017003297.1:c.4577_4597delinsGCTGTGCGGTATGCGAGGCCC | XP_016858786.1:p.Arg1526= | |
| XM_017003298.1:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC | XP_016858787.1:p.Arg1565= | |
| XM_017003300.1:c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC | XP_016858789.1:n.4216+13915_4216+13935del... | |
| XR_001738602.1:n.5020_5040delinsGCTGTGCGGTATGCGAGGCCC | ||
| XR_001738603.1:n.5020_5040delinsGCTGTGCGGTATGCGAGGCCC | ||
| XR_001738604.1:n.4766_4786delinsGCTGTGCGGTATGCGAGGCCC | ||
| XR_001738606.1:n.4542+13915_4542+13935delinsGCTGTGCGGTATGCGAGGCCC | ||
| XR_001738607.1:n.4542+13915_4542+13935delinsGCTGTGCGGTATGCGAGGCCC | ||
| XR_922837.2:n.5020_5040delinsGCTGTGCGGTATGCGAGGCCC | ||
| NM_000092.5:c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC MANE Select | NP_000083.3:p.Arg1565= |