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_000017.11:g.43093876_43093895delinsCCACTATTAGTAATATTCAT , CM000679.2:g.43093876_43093895delinsCCACTATTAGTAATATTCAT | GRCh38 |
| NC_000017.10:g.41245893_41245912delinsCCACTATTAGTAATATTCAT , CM000679.1:g.41245893_41245912delinsCCACTATTAGTAATATTCAT | GRCh37 |
| NC_000017.9:g.38499419_38499438delinsCCACTATTAGTAATATTCAT | NCBI36 |
| NG_005905.2:g.124089_124108delinsATGAATATTACTAATAGTGG , LRG_292:g.124089_124108delinsATGAATATTACTAATAGTGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1700_1719delinsATGAATATTACTAATAGTGG | ||
| ENST00000461574.2:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000417241.2:p.Met546= | |
| ENST00000470026.6:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000419274.2:p.Met546= | |
| ENST00000473961.6:c.1510_1529delinsATGAATATTACTAATAGTGG | ENSP00000420201.2:p.Met504= | |
| ENST00000476777.6:c.1633_1652delinsATGAATATTACTAATAGTGG | ENSP00000417554.2:p.Met545= | |
| ENST00000477152.6:c.1558_1577delinsATGAATATTACTAATAGTGG | ENSP00000419988.2:p.Met520= | |
| ENST00000478531.6:c.784+849_784+868delinsATGAATATTACTAATAGTGG | ENSP00000420412.2:n.784+849_784+868delins... | |
| ENST00000489037.2:c.1558_1577delinsATGAATATTACTAATAGTGG | ENSP00000420781.2:p.Met520= | |
| ENST00000493919.6:c.646+849_646+868delinsATGAATATTACTAATAGTGG | ENSP00000418819.2:n.646+849_646+868delins... | |
| ENST00000494123.6:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000419103.2:p.Met546= | |
| ENST00000497488.2:c.748_767delinsATGAATATTACTAATAGTGG | ENSP00000418986.2:p.Met250= | |
| ENST00000618469.2:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000478114.2:p.Met546= | |
| ENST00000634433.2:c.1513_1532delinsATGAATATTACTAATAGTGG | ENSP00000489431.2:p.Met505= | |
| ENST00000644379.2:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000496570.2:p.Met546= | |
| ENST00000644555.2:c.646+849_646+868delinsATGAATATTACTAATAGTGG | ENSP00000494614.2:n.646+849_646+868delins... | |
| ENST00000652672.2:c.1495_1514delinsATGAATATTACTAATAGTGG | ENSP00000498906.2:p.Met499= | |
| ENST00000484087.6:c.664+849_664+868delinsATGAATATTACTAATAGTGG | ENSP00000419481.2:n.664+849_664+868delins... | |
| ENST00000700182.1:c.706+849_706+868delinsATGAATATTACTAATAGTGG | ENSP00000514849.1:n.706+849_706+868delins... | |
| ENST00000357654.9:c.1636_1655delinsATGAATATTACTAATAGTGG MANE Select | ENSP00000350283.3:p.Met546= | |
| ENST00000471181.7:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000418960.2:p.Met546= | |
| ENST00000652672.1:c.1495_1514delinsATGAATATTACTAATAGTGG | ENSP00000498906.1:p.Met499= | |
| ENST00000352993.7:c.670+1951_670+1970delinsATGAATATTACTAATAGTGG | ENSP00000312236.5:n.670+1951_670+1970deli... | |
| ENST00000354071.7:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000326002.7:p.Met546= | |
| ENST00000357654.7:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000350283.3:p.Met546= | |
| ENST00000412061.3:c.987_1006delinsATGAATATTACTAATAGTGG | ||
| ENST00000461221.5:c.*1419_*1438delinsATGAATATTACTAATAGTGG | ENSP00000418548.1:n.*1419_*1438delinsATGA... | |
| ENST00000468300.5:c.787+849_787+868delinsATGAATATTACTAATAGTGG | ENSP00000417148.1:n.787+849_787+868delins... | |
| ENST00000470026.5:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000419274.1:p.Met546= | |
| ENST00000471181.6:c.1636_1655delinsATGAATATTACTAATAGTGG | ENSP00000418960.2:p.Met546= | |
| ENST00000477152.5:c.1558_1577delinsATGAATATTACTAATAGTGG | ENSP00000419988.1:p.Met520= | |
| ENST00000478531.5:c.784+849_784+868delinsATGAATATTACTAATAGTGG | ENSP00000420412.1:n.784+849_784+868delins... | |
| ENST00000484087.5:c.409+849_409+868delinsATGAATATTACTAATAGTGG | ENSP00000419481.1:n.409+849_409+868delins... | |
| ENST00000487825.5:c.412+849_412+868delinsATGAATATTACTAATAGTGG | ENSP00000418212.1:n.412+849_412+868delins... | |
| ENST00000491747.6:c.787+849_787+868delinsATGAATATTACTAATAGTGG | ENSP00000420705.2:n.787+849_787+868delins... | |
| ENST00000493795.5:c.1495_1514delinsATGAATATTACTAATAGTGG | ENSP00000418775.1:p.Met499= | |
| ENST00000493919.5:c.646+849_646+868delinsATGAATATTACTAATAGTGG | ENSP00000418819.1:n.646+849_646+868delins... | |
| ENST00000586385.5:c.5-29944_5-29925delinsATGAATATTACTAATAGTGG | ENSP00000465818.1:n.5-29944_5-29925delins... | |
| ENST00000591534.5:c.-43-19374_-43-19355delinsATGAATATTACTAATAGTGG | ENSP00000467329.1:n.-43-19374_-43-19355de... | |
| ENST00000591849.5:c.-99+31376_-99+31395delinsATGAATATTACTAATAGTGG | ENSP00000465347.1:n.-99+31376_-99+31395de... | |
| ENST00000634433.1:c.1513_1532delinsATGAATATTACTAATAGTGG | ENSP00000489431.1:p.Met505= | |
| NM_007294.3:c.1636_1655delinsATGAATATTACTAATAGTGG , LRG_292t1:c.1636_1655delinsATGAATATTACTAATAGTGG | NP_009225.1:p.Met546= | |
| NM_007297.3:c.1495_1514delinsATGAATATTACTAATAGTGG | NP_009228.2:p.Met499= | |
| NM_007298.3:c.787+849_787+868delinsATGAATATTACTAATAGTGG | NP_009229.2:n.787+849_787+868delinsATGAAT... | |
| NM_007299.3:c.787+849_787+868delinsATGAATATTACTAATAGTGG | NP_009230.2:n.787+849_787+868delinsATGAAT... | |
| NM_007300.3:c.1636_1655delinsATGAATATTACTAATAGTGG | NP_009231.2:p.Met546= | |
| NR_027676.1:n.1772_1791delinsATGAATATTACTAATAGTGG | ||
| NM_007294.4:c.1636_1655delinsATGAATATTACTAATAGTGG MANE Select | NP_009225.1:p.Met546= | |
| NM_007297.4:c.1495_1514delinsATGAATATTACTAATAGTGG | NP_009228.2:p.Met499= | |
| NM_007299.4:c.787+849_787+868delinsATGAATATTACTAATAGTGG | NP_009230.2:n.787+849_787+868delinsATGAAT... | |
| NM_007300.4:c.1636_1655delinsATGAATATTACTAATAGTGG | NP_009231.2:p.Met546= | |
| NR_027676.2:n.1813_1832delinsATGAATATTACTAATAGTGG |