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_000010.11:g.121517146_121517148delinsCTG , CM000672.2:g.121517146_121517148delinsCTG | GRCh38 |
| NC_000010.10:g.123276660_123276662delinsCTG , CM000672.1:g.123276660_123276662delinsCTG | GRCh37 |
| NC_000010.9:g.123266650_123266652delinsCTG | NCBI36 |
| NG_012449.1:g.86311_86313delinsCAG | |
| NG_012449.2:g.86311_86313delinsCAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457416.7:c.1087+1534_1087+1536delinsCAG MANE Plus Clinical | ENSP00000410294.2:n.1087+1534_1087+1536de... | |
| ENST00000351936.11:c.1084+171_1084+173delinsCAG | ENSP00000309878.10:n.1084+171_1084+173del... | |
| ENST00000638709.2:c.-87+171_-87+173delinsCAG | ENSP00000491912.2:n.-87+171_-87+173delins... | |
| ENST00000682296.1:n.432+171_432+173delinsCAG | ||
| ENST00000682550.1:c.739+171_739+173delinsCAG | ENSP00000507633.1:n.739+171_739+173delins... | |
| ENST00000682772.1:c.-87+171_-87+173delinsCAG | ENSP00000506848.1:n.-87+171_-87+173delins... | |
| ENST00000683211.1:c.1084+171_1084+173delinsCAG | ENSP00000508257.1:n.1084+171_1084+173deli... | |
| ENST00000683250.1:c.404-13207_404-13205delinsCAG | ENSP00000506847.1:n.404-13207_404-13205de... | |
| ENST00000683418.1:n.3431+171_3431+173delinsCAG | ||
| ENST00000684153.1:c.739+171_739+173delinsCAG | ENSP00000506937.1:n.739+171_739+173delins... | |
| ENST00000358487.10:c.1084+171_1084+173delinsCAG MANE Select | ENSP00000351276.6:n.1084+171_1084+173deli... | |
| ENST00000336553.10:c.817+171_817+173delinsCAG | ENSP00000337665.6:n.817+171_817+173delins... | |
| ENST00000346997.6:c.1084+171_1084+173delinsCAG | ENSP00000263451.5:n.1084+171_1084+173deli... | |
| ENST00000351936.10:c.1090+171_1090+173delinsCAG | ENSP00000309878.9:n.1090+171_1090+173deli... | |
| ENST00000356226.8:c.739+171_739+173delinsCAG | ENSP00000348559.4:n.739+171_739+173delins... | |
| ENST00000357555.9:c.817+171_817+173delinsCAG | ENSP00000350166.5:n.817+171_817+173delins... | |
| ENST00000358487.9:c.1084+171_1084+173delinsCAG | ENSP00000351276.5:n.1084+171_1084+173deli... | |
| ENST00000360144.7:c.820+1534_820+1536delinsCAG | ENSP00000353262.3:n.820+1534_820+1536deli... | |
| ENST00000369056.5:c.1087+1534_1087+1536delinsCAG | ENSP00000358052.1:n.1087+1534_1087+1536de... | |
| ENST00000369058.7:c.1087+1534_1087+1536delinsCAG | ENSP00000358054.3:n.1087+1534_1087+1536de... | |
| ENST00000369059.5:c.742+1534_742+1536delinsCAG | ENSP00000358055.1:n.742+1534_742+1536deli... | |
| ENST00000369060.8:c.939+2831_939+2833delinsCAG | ENSP00000358056.4:n.939+2831_939+2833deli... | |
| ENST00000369061.8:c.749-1829_749-1827delinsCAG | ENSP00000358057.4:n.749-1829_749-1827deli... | |
| ENST00000457416.6:c.1087+1534_1087+1536delinsCAG | ENSP00000410294.2:n.1087+1534_1087+1536de... | |
| ENST00000463870.5:n.293+171_293+173delinsCAG | ||
| ENST00000478859.5:c.400+171_400+173delinsCAG | ENSP00000474011.1:n.400+171_400+173delins... | |
| ENST00000604236.5:c.*131+171_*131+173delinsCAG | ENSP00000474109.1:n.*131+171_*131+173deli... | |
| ENST00000613048.4:c.817+171_817+173delinsCAG | ENSP00000484154.1:n.817+171_817+173delins... | |
| NM_000141.4:c.1084+171_1084+173delinsCAG | NP_000132.3:n.1084+171_1084+173delinsCAG | |
| NM_001144913.1:c.1087+1534_1087+1536delinsCAG | NP_001138385.1:n.1087+1534_1087+1536delin... | |
| NM_001144914.1:c.749-1829_749-1827delinsCAG | NP_001138386.1:n.749-1829_749-1827delinsC... | |
| NM_001144915.1:c.817+171_817+173delinsCAG | NP_001138387.1:n.817+171_817+173delinsCAG... | |
| NM_001144916.1:c.739+171_739+173delinsCAG | NP_001138388.1:n.739+171_739+173delinsCAG... | |
| NM_001144917.1:c.939+2831_939+2833delinsCAG | NP_001138389.1:n.939+2831_939+2833delinsC... | |
| NM_001144918.1:c.739+171_739+173delinsCAG | NP_001138390.1:n.739+171_739+173delinsCAG... | |
| NM_001144919.1:c.820+1534_820+1536delinsCAG | NP_001138391.1:n.820+1534_820+1536delinsC... | |
| NM_022970.3:c.1087+1534_1087+1536delinsCAG | NP_075259.4:n.1087+1534_1087+1536delinsCA... | |
| NM_023029.2:c.817+171_817+173delinsCAG | NP_075418.1:n.817+171_817+173delinsCAG | |
| NR_073009.1:n.1534+171_1534+173delinsCAG | ||
| XM_006717708.2:c.1144+1534_1144+1536delinsCAG | XP_006717771.1:n.1144+1534_1144+1536delin... | |
| XM_006717709.2:c.1141+171_1141+173delinsCAG | XP_006717772.1:n.1141+171_1141+173delinsC... | |
| XM_006717710.2:c.1144+1534_1144+1536delinsCAG | XP_006717773.1:n.1144+1534_1144+1536delin... | |
| XM_006717711.2:c.877+1534_877+1536delinsCAG | XP_006717774.1:n.877+1534_877+1536delinsC... | |
| XM_006717712.2:c.799+1534_799+1536delinsCAG | XP_006717775.1:n.799+1534_799+1536delinsC... | |
| XM_006717713.2:c.1141+171_1141+173delinsCAG | XP_006717776.1:n.1141+171_1141+173delinsC... | |
| XM_011539510.1:c.400+171_400+173delinsCAG | XP_011537812.1:n.400+171_400+173delinsCAG... | |
| NM_001320654.1:c.400+171_400+173delinsCAG | NP_001307583.1:n.400+171_400+173delinsCAG... | |
| NM_001320658.1:c.1084+171_1084+173delinsCAG | NP_001307587.1:n.1084+171_1084+173delinsC... | |
| XM_006717708.3:c.1144+1534_1144+1536delinsCAG | XP_006717771.1:n.1144+1534_1144+1536delin... | |
| XM_006717710.4:c.1144+1534_1144+1536delinsCAG | XP_006717773.1:n.1144+1534_1144+1536delin... | |
| XM_017015920.2:c.1144+1534_1144+1536delinsCAG | XP_016871409.1:n.1144+1534_1144+1536delin... | |
| XM_017015921.2:c.1141+171_1141+173delinsCAG | XP_016871410.1:n.1141+171_1141+173delinsC... | |
| XM_017015924.2:c.796+171_796+173delinsCAG | XP_016871413.1:n.796+171_796+173delinsCAG... | |
| XM_017015925.2:c.796+171_796+173delinsCAG | XP_016871414.1:n.796+171_796+173delinsCAG... | |
| XM_024447887.1:c.874+171_874+173delinsCAG | XP_024303655.1:n.874+171_874+173delinsCAG... | |
| XM_024447888.1:c.877+1534_877+1536delinsCAG | XP_024303656.1:n.877+1534_877+1536delinsC... | |
| XM_024447889.1:c.874+171_874+173delinsCAG | XP_024303657.1:n.874+171_874+173delinsCAG... | |
| XM_024447890.1:c.877+1534_877+1536delinsCAG | XP_024303658.1:n.877+1534_877+1536delinsC... | |
| XM_024447891.1:c.799+1534_799+1536delinsCAG | XP_024303659.1:n.799+1534_799+1536delinsC... | |
| XM_024447892.1:c.-87+171_-87+173delinsCAG | XP_024303660.1:n.-87+171_-87+173delinsCAG... | |
| NM_000141.5:c.1084+171_1084+173delinsCAG MANE Select | NP_000132.3:n.1084+171_1084+173delinsCAG | |
| NM_001144917.2:c.939+2831_939+2833delinsCAG | NP_001138389.1:n.939+2831_939+2833delinsC... | |
| NM_001144918.2:c.739+171_739+173delinsCAG | NP_001138390.1:n.739+171_739+173delinsCAG... | |
| NM_001144919.2:c.820+1534_820+1536delinsCAG | NP_001138391.1:n.820+1534_820+1536delinsC... | |
| NM_001320658.2:c.1084+171_1084+173delinsCAG | NP_001307587.1:n.1084+171_1084+173delinsC... | |
| NR_073009.2:n.1520+171_1520+173delinsCAG | ||
| NM_001144915.2:c.817+171_817+173delinsCAG | NP_001138387.1:n.817+171_817+173delinsCAG... | |
| NM_001144916.2:c.739+171_739+173delinsCAG | NP_001138388.1:n.739+171_739+173delinsCAG... | |
| NM_001320654.2:c.400+171_400+173delinsCAG | NP_001307583.1:n.400+171_400+173delinsCAG... |