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.7809802_7809809delinsATCTTAAT , CM000663.2:g.7809802_7809809delinsATCTTAAT | GRCh38 |
| NC_000001.10:g.7869862_7869869delinsATCTTAAT , CM000663.1:g.7869862_7869869delinsATCTTAAT | GRCh37 |
| NC_000001.9:g.7792449_7792456delinsATCTTAAT | NCBI36 |
| NG_046850.1:g.30423_30430delinsATCTTAAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377532.8:c.1243-91_1243-84delinsATCTTAAT MANE Select | ENSP00000366755.3:n.1243-91_1243-84delins... | |
| ENST00000361923.2:c.1240-91_1240-84delinsATCTTAAT | ENSP00000355031.2:n.1240-91_1240-84delins... | |
| ENST00000377532.7:c.1243-91_1243-84delinsATCTTAAT | ENSP00000366755.3:n.1243-91_1243-84delins... | |
| ENST00000463106.1:n.261-91_261-84delinsATCTTAAT | ||
| ENST00000613533.4:c.1243-91_1243-84delinsATCTTAAT | ENSP00000482093.1:n.1243-91_1243-84delins... | |
| ENST00000614998.4:c.1243-91_1243-84delinsATCTTAAT | ENSP00000479223.1:n.1243-91_1243-84delins... | |
| NM_001289861.1:c.1243-91_1243-84delinsATCTTAAT | NP_001276790.1:n.1243-91_1243-84delinsATC... | |
| NM_001289862.1:c.1243-91_1243-84delinsATCTTAAT | NP_001276791.1:n.1243-91_1243-84delinsATC... | |
| NM_001289863.1:c.1243-91_1243-84delinsATCTTAAT | NP_001276792.1:n.1243-91_1243-84delinsATC... | |
| NM_001289864.1:c.286-91_286-84delinsATCTTAAT | NP_001276793.1:n.286-91_286-84delinsATCTT... | |
| NM_016831.2:c.1240-91_1240-84delinsATCTTAAT | NP_058515.1:n.1240-91_1240-84delinsATCTTA... | |
| XM_005263521.2:c.1243-91_1243-84delinsATCTTAAT | XP_005263578.1:n.1243-91_1243-84delinsATC... | |
| XM_005263522.2:c.1240-91_1240-84delinsATCTTAAT | XP_005263579.1:n.1240-91_1240-84delinsATC... | |
| XM_005263523.2:c.1243-91_1243-84delinsATCTTAAT | XP_005263580.1:n.1243-91_1243-84delinsATC... | |
| XM_005263524.2:c.1243-91_1243-84delinsATCTTAAT | XP_005263581.1:n.1243-91_1243-84delinsATC... | |
| XM_005263529.2:c.718-91_718-84delinsATCTTAAT | XP_005263586.1:n.718-91_718-84delinsATCTT... | |
| XM_011542384.1:c.1243-91_1243-84delinsATCTTAAT | XP_011540686.1:n.1243-91_1243-84delinsATC... | |
| XM_011542385.1:c.1243-91_1243-84delinsATCTTAAT | XP_011540687.1:n.1243-91_1243-84delinsATC... | |
| XM_011542386.1:c.1243-91_1243-84delinsATCTTAAT | XP_011540688.1:n.1243-91_1243-84delinsATC... | |
| XM_011542387.1:c.1075-91_1075-84delinsATCTTAAT | XP_011540689.1:n.1075-91_1075-84delinsATC... | |
| XM_011542388.1:c.895-91_895-84delinsATCTTAAT | XP_011540690.1:n.895-91_895-84delinsATCTT... | |
| XM_011542389.1:c.880-91_880-84delinsATCTTAAT | XP_011540691.1:n.880-91_880-84delinsATCTT... | |
| XM_011542390.1:c.1243-91_1243-84delinsATCTTAAT | XP_011540692.1:n.1243-91_1243-84delinsATC... | |
| XM_005263524.4:c.1243-91_1243-84delinsATCTTAAT | XP_005263581.1:n.1243-91_1243-84delinsATC... | |
| XM_017002723.2:c.1240-91_1240-84delinsATCTTAAT | XP_016858212.1:n.1240-91_1240-84delinsATC... | |
| XM_017002724.2:c.1240-91_1240-84delinsATCTTAAT | XP_016858213.1:n.1240-91_1240-84delinsATC... | |
| XM_017002726.2:c.1240-91_1240-84delinsATCTTAAT | XP_016858215.1:n.1240-91_1240-84delinsATC... | |
| XM_017002727.1:c.1075-91_1075-84delinsATCTTAAT | XP_016858216.1:n.1075-91_1075-84delinsATC... | |
| XM_017002728.1:c.895-91_895-84delinsATCTTAAT | XP_016858217.1:n.895-91_895-84delinsATCTT... | |
| XM_017002729.1:c.880-91_880-84delinsATCTTAAT | XP_016858218.1:n.880-91_880-84delinsATCTT... | |
| XM_017002730.2:c.895-91_895-84delinsATCTTAAT | XP_016858219.1:n.895-91_895-84delinsATCTT... | |
| XM_017002731.2:c.895-91_895-84delinsATCTTAAT | XP_016858220.1:n.895-91_895-84delinsATCTT... | |
| XM_017002732.1:c.895-91_895-84delinsATCTTAAT | XP_016858221.1:n.895-91_895-84delinsATCTT... | |
| XM_017002733.2:c.718-91_718-84delinsATCTTAAT | XP_016858222.1:n.718-91_718-84delinsATCTT... | |
| XM_017002734.1:c.718-91_718-84delinsATCTTAAT | XP_016858223.1:n.718-91_718-84delinsATCTT... | |
| XM_017002735.2:c.718-91_718-84delinsATCTTAAT | XP_016858224.1:n.718-91_718-84delinsATCTT... | |
| XM_017002737.1:c.-129-91_-129-84delinsATCTTAAT | XP_016858226.1:n.-129-91_-129-84delinsATC... | |
| XM_017002738.2:c.-129-91_-129-84delinsATCTTAAT | XP_016858227.1:n.-129-91_-129-84delinsATC... | |
| XM_024450585.1:c.1243-91_1243-84delinsATCTTAAT | XP_024306353.1:n.1243-91_1243-84delinsATC... | |
| XM_024450586.1:c.1243-91_1243-84delinsATCTTAAT | XP_024306354.1:n.1243-91_1243-84delinsATC... | |
| XM_024450587.1:c.1243-91_1243-84delinsATCTTAAT | XP_024306355.1:n.1243-91_1243-84delinsATC... | |
| XM_024450588.1:c.1243-91_1243-84delinsATCTTAAT | XP_024306356.1:n.1243-91_1243-84delinsATC... | |
| XM_024450590.1:c.1240-91_1240-84delinsATCTTAAT | XP_024306358.1:n.1240-91_1240-84delinsATC... | |
| XM_024450611.1:c.718-91_718-84delinsATCTTAAT | XP_024306379.1:n.718-91_718-84delinsATCTT... | |
| XM_024450612.1:c.718-91_718-84delinsATCTTAAT | XP_024306380.1:n.718-91_718-84delinsATCTT... | |
| NM_001289861.2:c.1243-91_1243-84delinsATCTTAAT | NP_001276790.1:n.1243-91_1243-84delinsATC... | |
| NM_001289862.2:c.1243-91_1243-84delinsATCTTAAT | NP_001276791.1:n.1243-91_1243-84delinsATC... | |
| NM_001289863.3:c.1243-91_1243-84delinsATCTTAAT | NP_001276792.1:n.1243-91_1243-84delinsATC... | |
| NM_001289864.3:c.286-91_286-84delinsATCTTAAT | NP_001276793.1:n.286-91_286-84delinsATCTT... | |
| NM_001377275.1:c.1243-91_1243-84delinsATCTTAAT MANE Select | NP_001364204.1:n.1243-91_1243-84delinsATC... | |
| NM_001377276.1:c.1243-91_1243-84delinsATCTTAAT | NP_001364205.1:n.1243-91_1243-84delinsATC... | |
| NM_016831.4:c.1240-91_1240-84delinsATCTTAAT | NP_058515.1:n.1240-91_1240-84delinsATCTTA... |