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.140781597_140781600delinsCTGT , CM000669.2:g.140781597_140781600delinsCTGT | GRCh38 |
| NC_000007.13:g.140481397_140481400delinsCTGT , CM000669.1:g.140481397_140481400delinsCTGT | GRCh37 |
| NC_000007.12:g.140127866_140127869delinsCTGT | NCBI36 |
| NG_007873.3:g.148165_148168delinsACAG , LRG_299:g.148165_148168delinsACAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1408_1411delinsACAG MANE Select | ENSP00000493543.1:p.Thr470= | |
| ENST00000288602.11:c.1528_1531delinsACAG | ENSP00000288602.7:p.Thr510= | |
| ENST00000479537.6:c.78_81delinsACAG | ||
| ENST00000496384.7:c.1408_1411delinsACAG | ENSP00000419060.2:p.Thr470= | |
| ENST00000497784.2:c.*858_*861delinsACAG | ENSP00000420119.2:n.*858_*861delinsACAG | |
| ENST00000642228.1:c.*486_*489delinsACAG | ENSP00000493678.1:n.*486_*489delinsACAG | |
| ENST00000642875.1:n.850_853delinsACAG | ||
| ENST00000644120.1:n.1798_1801delinsACAG | ||
| ENST00000644650.1:c.504_507delinsACAG | ||
| ENST00000644905.1:n.1497_1500delinsACAG | ||
| ENST00000644969.2:c.1528_1531delinsACAG MANE Plus Clinical | ENSP00000496776.1:p.Thr510= | |
| ENST00000646334.1:n.538_541delinsACAG | ||
| ENST00000646730.1:c.1408_1411delinsACAG | ENSP00000494784.1:p.Thr470= | |
| ENST00000646891.1:c.1408_1411delinsACAG | ENSP00000493543.1:p.Thr470= | |
| ENST00000647434.1:c.451_454delinsACAG | ENSP00000495132.1:p.Thr151= | |
| ENST00000288602.10:c.1408_1411delinsACAG | ENSP00000288602.6:p.Thr470= | |
| ENST00000496384.6:c.231_234delinsACAG | ||
| ENST00000497784.1:c.1443_1446delinsACAG | ENSP00000420119.1:n.1443_1446delinsACAG | |
| NM_004333.4:c.1408_1411delinsACAG , LRG_299t1:c.1408_1411delinsACAG | NP_004324.2:p.Thr470= | |
| XM_005250045.1:c.1408_1411delinsACAG | XP_005250102.1:p.Thr470= | |
| XM_005250046.1:c.1408_1411delinsACAG | XP_005250103.1:p.Thr470= | |
| XM_011516529.1:c.1408_1411delinsACAG | XP_011514831.1:p.Thr470= | |
| XM_011516530.1:c.1408_1411delinsACAG | XP_011514832.1:p.Thr470= | |
| XR_242190.1:n.1416_1419delinsACAG | ||
| XR_927520.1:n.1416_1419delinsACAG | ||
| XR_927521.1:n.1416_1419delinsACAG | ||
| XR_927522.1:n.1416_1419delinsACAG | ||
| XR_927523.1:n.1416_1419delinsACAG | ||
| NM_001354609.1:c.1408_1411delinsACAG | NP_001341538.1:p.Thr470= | |
| NM_004333.5:c.1408_1411delinsACAG | NP_004324.2:p.Thr470= | |
| NR_148928.1:n.1713_1716delinsACAG | ||
| XM_017012558.1:c.1528_1531delinsACAG | XP_016868047.1:p.Thr510= | |
| XM_017012559.1:c.1528_1531delinsACAG | XP_016868048.1:p.Thr510= | |
| XR_001744857.1:n.1536_1539delinsACAG | ||
| XR_001744858.1:n.1536_1539delinsACAG | ||
| NM_001354609.2:c.1408_1411delinsACAG | NP_001341538.1:p.Thr470= | |
| NM_001374244.1:c.1528_1531delinsACAG | NP_001361173.1:p.Thr510= | |
| NM_001374258.1:c.1528_1531delinsACAG MANE Plus Clinical | NP_001361187.1:p.Thr510= | |
| NM_004333.6:c.1408_1411delinsACAG MANE Select | NP_004324.2:p.Thr470= | |
| NM_001378467.1:c.1417_1420delinsACAG | NP_001365396.1:p.Thr473= | |
| NM_001378468.1:c.1408_1411delinsACAG | NP_001365397.1:p.Thr470= | |
| NM_001378469.1:c.1342_1345delinsACAG | NP_001365398.1:p.Thr448= | |
| NM_001378470.1:c.1306_1309delinsACAG | NP_001365399.1:p.Thr436= | |
| NM_001378471.1:c.1297_1300delinsACAG | NP_001365400.1:p.Thr433= | |
| NM_001378472.1:c.1252_1255delinsACAG | NP_001365401.1:p.Thr418= | |
| NM_001378473.1:c.1252_1255delinsACAG | NP_001365402.1:p.Thr418= | |
| NM_001378474.1:c.1408_1411delinsACAG | NP_001365403.1:p.Thr470= | |
| NM_001378475.1:c.1144_1147delinsACAG | NP_001365404.1:p.Thr382= |