WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781579_140781580insT , CM000669.2:g.140781579_140781580insT | GRCh38 |
| NC_000007.13:g.140481379_140481380insT , CM000669.1:g.140481379_140481380insT | GRCh37 |
| NC_000007.12:g.140127848_140127849insT | NCBI36 |
| NG_007873.3:g.148185_148186insA , LRG_299:g.148185_148186insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1428_1429insA MANE Select | ENSP00000493543.1:p.His477ThrfsTer3 | |
| ENST00000288602.11:c.1548_1549insA | ENSP00000288602.7:p.His517ThrfsTer3 | |
| ENST00000479537.6:c.98_99insA | ||
| ENST00000496384.7:c.1428_1429insA | ENSP00000419060.2:p.His477ThrfsTer3 | |
| ENST00000497784.2:c.*878_*879insA | ENSP00000420119.2:n.*878_*879insA | |
| ENST00000642228.1:c.*506_*507insA | ENSP00000493678.1:n.*506_*507insA | |
| ENST00000642875.1:n.870_871insA | ||
| ENST00000644120.1:n.1818_1819insA | ||
| ENST00000644650.1:c.524_525insA | ||
| ENST00000644905.1:n.1517_1518insA | ||
| ENST00000644969.2:c.1548_1549insA MANE Plus Clinical | ENSP00000496776.1:p.His517ThrfsTer3 | |
| ENST00000646334.1:n.558_559insA | ||
| ENST00000646730.1:c.1428_1429insA | ENSP00000494784.1:p.His477ThrfsTer3 | |
| ENST00000646891.1:c.1428_1429insA | ENSP00000493543.1:p.His477ThrfsTer3 | |
| ENST00000647434.1:c.471_472insA | ENSP00000495132.1:p.His158ThrfsTer3 | |
| ENST00000288602.10:c.1428_1429insA | ENSP00000288602.6:p.His477ThrfsTer3 | |
| ENST00000496384.6:c.251_252insA | ||
| ENST00000497784.1:c.1463_1464insA | ENSP00000420119.1:n.1463_1464insA | |
| NM_004333.4:c.1428_1429insA , LRG_299t1:c.1428_1429insA | NP_004324.2:p.His477ThrfsTer3 | |
| XM_005250045.1:c.1428_1429insA | XP_005250102.1:p.His477ThrfsTer3 | |
| XM_005250046.1:c.1428_1429insA | XP_005250103.1:p.His477ThrfsTer3 | |
| XM_011516529.1:c.1428_1429insA | XP_011514831.1:p.His477ThrfsTer3 | |
| XM_011516530.1:c.1428_1429insA | XP_011514832.1:p.His477ThrfsTer3 | |
| XR_242190.1:n.1436_1437insA | ||
| XR_927520.1:n.1436_1437insA | ||
| XR_927521.1:n.1436_1437insA | ||
| XR_927522.1:n.1436_1437insA | ||
| XR_927523.1:n.1436_1437insA | ||
| NM_001354609.1:c.1428_1429insA | NP_001341538.1:p.His477ThrfsTer3 | |
| NM_004333.5:c.1428_1429insA | NP_004324.2:p.His477ThrfsTer3 | |
| NR_148928.1:n.1733_1734insA | ||
| XM_017012558.1:c.1548_1549insA | XP_016868047.1:p.His517ThrfsTer3 | |
| XM_017012559.1:c.1548_1549insA | XP_016868048.1:p.His517ThrfsTer3 | |
| XR_001744857.1:n.1556_1557insA | ||
| XR_001744858.1:n.1556_1557insA | ||
| NM_001354609.2:c.1428_1429insA | NP_001341538.1:p.His477ThrfsTer3 | |
| NM_001374244.1:c.1548_1549insA | NP_001361173.1:p.His517ThrfsTer3 | |
| NM_001374258.1:c.1548_1549insA MANE Plus Clinical | NP_001361187.1:p.His517ThrfsTer3 | |
| NM_004333.6:c.1428_1429insA MANE Select | NP_004324.2:p.His477ThrfsTer3 | |
| NM_001378467.1:c.1437_1438insA | NP_001365396.1:p.His480ThrfsTer3 | |
| NM_001378468.1:c.1428_1429insA | NP_001365397.1:p.His477ThrfsTer3 | |
| NM_001378469.1:c.1362_1363insA | NP_001365398.1:p.His455ThrfsTer3 | |
| NM_001378470.1:c.1326_1327insA | NP_001365399.1:p.His443ThrfsTer3 | |
| NM_001378471.1:c.1317_1318insA | NP_001365400.1:p.His440ThrfsTer3 | |
| NM_001378472.1:c.1272_1273insA | NP_001365401.1:p.His425ThrfsTer3 | |
| NM_001378473.1:c.1272_1273insA | NP_001365402.1:p.His425ThrfsTer3 | |
| NM_001378474.1:c.1428_1429insA | NP_001365403.1:p.His477ThrfsTer3 | |
| NM_001378475.1:c.1164_1165insA | NP_001365404.1:p.His389ThrfsTer3 |