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_000001.11:g.7798114_7798116delinsCTG , CM000663.2:g.7798114_7798116delinsCTG | GRCh38 |
| NC_000001.10:g.7858174_7858176delinsCTG , CM000663.1:g.7858174_7858176delinsCTG | GRCh37 |
| NC_000001.9:g.7780761_7780763delinsCTG | NCBI36 |
| NG_046850.1:g.18735_18737delinsCTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377532.8:c.645-411_645-409delinsCTG MANE Select | ENSP00000366755.3:n.645-411_645-409delins... | |
| ENST00000361923.2:c.642-411_642-409delinsCTG | ENSP00000355031.2:n.642-411_642-409delins... | |
| ENST00000377532.7:c.645-411_645-409delinsCTG | ENSP00000366755.3:n.645-411_645-409delins... | |
| ENST00000377541.5:c.642-411_642-409delinsCTG | ENSP00000366764.1:n.642-411_642-409delins... | |
| ENST00000613533.4:c.645-411_645-409delinsCTG | ENSP00000482093.1:n.645-411_645-409delins... | |
| ENST00000614998.4:c.645-411_645-409delinsCTG | ENSP00000479223.1:n.645-411_645-409delins... | |
| NM_001289861.1:c.645-411_645-409delinsCTG | NP_001276790.1:n.645-411_645-409delinsCTG... | |
| NM_001289862.1:c.645-411_645-409delinsCTG | NP_001276791.1:n.645-411_645-409delinsCTG... | |
| NM_001289863.1:c.645-411_645-409delinsCTG | NP_001276792.1:n.645-411_645-409delinsCTG... | |
| NM_001289864.1:c.-377-347_-377-345delinsCTG | NP_001276793.1:n.-377-347_-377-345delinsC... | |
| NM_016831.2:c.642-411_642-409delinsCTG | NP_058515.1:n.642-411_642-409delinsCTG | |
| XM_005263521.2:c.645-411_645-409delinsCTG | XP_005263578.1:n.645-411_645-409delinsCTG... | |
| XM_005263522.2:c.642-411_642-409delinsCTG | XP_005263579.1:n.642-411_642-409delinsCTG... | |
| XM_005263523.2:c.645-411_645-409delinsCTG | XP_005263580.1:n.645-411_645-409delinsCTG... | |
| XM_005263524.2:c.645-411_645-409delinsCTG | XP_005263581.1:n.645-411_645-409delinsCTG... | |
| XM_005263529.2:c.120-411_120-409delinsCTG | XP_005263586.1:n.120-411_120-409delinsCTG... | |
| XM_011542384.1:c.645-411_645-409delinsCTG | XP_011540686.1:n.645-411_645-409delinsCTG... | |
| XM_011542385.1:c.645-411_645-409delinsCTG | XP_011540687.1:n.645-411_645-409delinsCTG... | |
| XM_011542386.1:c.645-411_645-409delinsCTG | XP_011540688.1:n.645-411_645-409delinsCTG... | |
| XM_011542387.1:c.477-411_477-409delinsCTG | XP_011540689.1:n.477-411_477-409delinsCTG... | |
| XM_011542388.1:c.297-411_297-409delinsCTG | XP_011540690.1:n.297-411_297-409delinsCTG... | |
| XM_011542389.1:c.282-411_282-409delinsCTG | XP_011540691.1:n.282-411_282-409delinsCTG... | |
| XM_011542390.1:c.645-411_645-409delinsCTG | XP_011540692.1:n.645-411_645-409delinsCTG... | |
| XM_005263524.4:c.645-411_645-409delinsCTG | XP_005263581.1:n.645-411_645-409delinsCTG... | |
| XM_017002723.2:c.642-411_642-409delinsCTG | XP_016858212.1:n.642-411_642-409delinsCTG... | |
| XM_017002724.2:c.642-411_642-409delinsCTG | XP_016858213.1:n.642-411_642-409delinsCTG... | |
| XM_017002726.2:c.642-411_642-409delinsCTG | XP_016858215.1:n.642-411_642-409delinsCTG... | |
| XM_017002727.1:c.477-411_477-409delinsCTG | XP_016858216.1:n.477-411_477-409delinsCTG... | |
| XM_017002728.1:c.297-411_297-409delinsCTG | XP_016858217.1:n.297-411_297-409delinsCTG... | |
| XM_017002729.1:c.282-411_282-409delinsCTG | XP_016858218.1:n.282-411_282-409delinsCTG... | |
| XM_017002730.2:c.297-411_297-409delinsCTG | XP_016858219.1:n.297-411_297-409delinsCTG... | |
| XM_017002731.2:c.297-411_297-409delinsCTG | XP_016858220.1:n.297-411_297-409delinsCTG... | |
| XM_017002732.1:c.297-411_297-409delinsCTG | XP_016858221.1:n.297-411_297-409delinsCTG... | |
| XM_017002733.2:c.120-411_120-409delinsCTG | XP_016858222.1:n.120-411_120-409delinsCTG... | |
| XM_017002734.1:c.120-411_120-409delinsCTG | XP_016858223.1:n.120-411_120-409delinsCTG... | |
| XM_017002735.2:c.120-411_120-409delinsCTG | XP_016858224.1:n.120-411_120-409delinsCTG... | |
| XM_017002737.1:c.-621-411_-621-409delinsCTG | XP_016858226.1:n.-621-411_-621-409delinsC... | |
| XM_017002738.2:c.-621-411_-621-409delinsCTG | XP_016858227.1:n.-621-411_-621-409delinsC... | |
| XM_024450585.1:c.645-411_645-409delinsCTG | XP_024306353.1:n.645-411_645-409delinsCTG... | |
| XM_024450586.1:c.645-411_645-409delinsCTG | XP_024306354.1:n.645-411_645-409delinsCTG... | |
| XM_024450587.1:c.645-411_645-409delinsCTG | XP_024306355.1:n.645-411_645-409delinsCTG... | |
| XM_024450588.1:c.645-411_645-409delinsCTG | XP_024306356.1:n.645-411_645-409delinsCTG... | |
| XM_024450590.1:c.642-411_642-409delinsCTG | XP_024306358.1:n.642-411_642-409delinsCTG... | |
| XM_024450611.1:c.120-411_120-409delinsCTG | XP_024306379.1:n.120-411_120-409delinsCTG... | |
| XM_024450612.1:c.120-411_120-409delinsCTG | XP_024306380.1:n.120-411_120-409delinsCTG... | |
| NM_001289861.2:c.645-411_645-409delinsCTG | NP_001276790.1:n.645-411_645-409delinsCTG... | |
| NM_001289862.2:c.645-411_645-409delinsCTG | NP_001276791.1:n.645-411_645-409delinsCTG... | |
| NM_001289863.3:c.645-411_645-409delinsCTG | NP_001276792.1:n.645-411_645-409delinsCTG... | |
| NM_001289864.3:c.-377-347_-377-345delinsCTG | NP_001276793.1:n.-377-347_-377-345delinsC... | |
| NM_001377275.1:c.645-411_645-409delinsCTG MANE Select | NP_001364204.1:n.645-411_645-409delinsCTG... | |
| NM_001377276.1:c.645-411_645-409delinsCTG | NP_001364205.1:n.645-411_645-409delinsCTG... | |
| NM_016831.4:c.642-411_642-409delinsCTG | NP_058515.1:n.642-411_642-409delinsCTG |