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.121578241_121578244delinsTGGC , CM000672.2:g.121578241_121578244delinsTGGC | GRCh38 |
| NC_000010.10:g.123337755_123337758delinsTGGC , CM000672.1:g.123337755_123337758delinsTGGC | GRCh37 |
| NC_000010.9:g.123327745_123327748delinsTGGC | NCBI36 |
| NG_012449.1:g.25215_25218delinsGCCA | |
| NG_012449.2:g.25215_25218delinsGCCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457416.7:c.110-12540_110-12537delinsGCCA MANE Plus Clinical | ENSP00000410294.2:n.110-12540_110-12537de... | |
| ENST00000351936.11:c.110-12540_110-12537delinsGCCA | ENSP00000309878.10:n.110-12540_110-12537d... | |
| ENST00000682400.1:n.109+15465_109+15468delinsGCCA | ||
| ENST00000682550.1:c.109+15465_109+15468delinsGCCA | ENSP00000507633.1:n.109+15465_109+15468de... | |
| ENST00000683035.1:c.110-12540_110-12537delinsGCCA | ENSP00000507074.1:n.110-12540_110-12537de... | |
| ENST00000683211.1:c.110-12540_110-12537delinsGCCA | ENSP00000508257.1:n.110-12540_110-12537de... | |
| ENST00000683250.1:c.109+15465_109+15468delinsGCCA | ENSP00000506847.1:n.109+15465_109+15468de... | |
| ENST00000683678.1:n.110-12540_110-12537delinsGCCA | ||
| ENST00000684153.1:c.109+15465_109+15468delinsGCCA | ENSP00000506937.1:n.109+15465_109+15468de... | |
| ENST00000358487.10:c.110-12540_110-12537delinsGCCA MANE Select | ENSP00000351276.6:n.110-12540_110-12537de... | |
| ENST00000636922.1:c.110-12540_110-12537delinsGCCA | ENSP00000490905.1:n.110-12540_110-12537de... | |
| ENST00000336553.10:c.110-13665_110-13662delinsGCCA | ENSP00000337665.6:n.110-13665_110-13662de... | |
| ENST00000346997.6:c.110-12540_110-12537delinsGCCA | ENSP00000263451.5:n.110-12540_110-12537de... | |
| ENST00000351936.10:c.110-12540_110-12537delinsGCCA | ENSP00000309878.9:n.110-12540_110-12537de... | |
| ENST00000356226.8:c.109+15465_109+15468delinsGCCA | ENSP00000348559.4:n.109+15465_109+15468de... | |
| ENST00000357555.9:c.110-13665_110-13662delinsGCCA | ENSP00000350166.5:n.110-13665_110-13662de... | |
| ENST00000358487.9:c.110-12540_110-12537delinsGCCA | ENSP00000351276.5:n.110-12540_110-12537de... | |
| ENST00000359354.6:c.110-12540_110-12537delinsGCCA | ENSP00000352309.2:n.110-12540_110-12537de... | |
| ENST00000360144.7:c.110-13665_110-13662delinsGCCA | ENSP00000353262.3:n.110-13665_110-13662de... | |
| ENST00000369056.5:c.110-12540_110-12537delinsGCCA | ENSP00000358052.1:n.110-12540_110-12537de... | |
| ENST00000369058.7:c.110-12540_110-12537delinsGCCA | ENSP00000358054.3:n.110-12540_110-12537de... | |
| ENST00000369059.5:c.109+15465_109+15468delinsGCCA | ENSP00000358055.1:n.109+15465_109+15468de... | |
| ENST00000369060.8:c.110-12540_110-12537delinsGCCA | ENSP00000358056.4:n.110-12540_110-12537de... | |
| ENST00000369061.8:c.110-12540_110-12537delinsGCCA | ENSP00000358057.4:n.110-12540_110-12537de... | |
| ENST00000457416.6:c.110-12540_110-12537delinsGCCA | ENSP00000410294.2:n.110-12540_110-12537de... | |
| ENST00000490349.5:n.371-12540_371-12537delinsGCCA | ||
| ENST00000604236.5:c.109+15465_109+15468delinsGCCA | ENSP00000474109.1:n.109+15465_109+15468de... | |
| ENST00000611527.1:c.110-13665_110-13662delinsGCCA | ENSP00000484892.1:n.110-13665_110-13662de... | |
| ENST00000613048.4:c.110-13665_110-13662delinsGCCA | ENSP00000484154.1:n.110-13665_110-13662de... | |
| ENST00000613324.4:c.57-12540_57-12537delinsGCCA | ||
| NM_000141.4:c.110-12540_110-12537delinsGCCA | NP_000132.3:n.110-12540_110-12537delinsGC... | |
| NM_001144913.1:c.110-12540_110-12537delinsGCCA | NP_001138385.1:n.110-12540_110-12537delin... | |
| NM_001144914.1:c.110-12540_110-12537delinsGCCA | NP_001138386.1:n.110-12540_110-12537delin... | |
| NM_001144915.1:c.110-13665_110-13662delinsGCCA | NP_001138387.1:n.110-13665_110-13662delin... | |
| NM_001144916.1:c.109+15465_109+15468delinsGCCA | NP_001138388.1:n.109+15465_109+15468delin... | |
| NM_001144917.1:c.110-12540_110-12537delinsGCCA | NP_001138389.1:n.110-12540_110-12537delin... | |
| NM_001144918.1:c.109+15465_109+15468delinsGCCA | NP_001138390.1:n.109+15465_109+15468delin... | |
| NM_001144919.1:c.110-13665_110-13662delinsGCCA | NP_001138391.1:n.110-13665_110-13662delin... | |
| NM_022970.3:c.110-12540_110-12537delinsGCCA | NP_075259.4:n.110-12540_110-12537delinsGC... | |
| NM_023029.2:c.110-13665_110-13662delinsGCCA | NP_075418.1:n.110-13665_110-13662delinsGC... | |
| NR_073009.1:n.756+15465_756+15468delinsGCCA | ||
| XM_006717708.2:c.167-12540_167-12537delinsGCCA | XP_006717771.1:n.167-12540_167-12537delin... | |
| XM_006717709.2:c.167-12540_167-12537delinsGCCA | XP_006717772.1:n.167-12540_167-12537delin... | |
| XM_006717710.2:c.167-12540_167-12537delinsGCCA | XP_006717773.1:n.167-12540_167-12537delin... | |
| XM_006717711.2:c.167-13665_167-13662delinsGCCA | XP_006717774.1:n.167-13665_167-13662delin... | |
| XM_006717712.2:c.166+15465_166+15468delinsGCCA | XP_006717775.1:n.166+15465_166+15468delin... | |
| XM_006717713.2:c.167-12540_167-12537delinsGCCA | XP_006717776.1:n.167-12540_167-12537delin... | |
| NM_001320658.1:c.110-12540_110-12537delinsGCCA | NP_001307587.1:n.110-12540_110-12537delin... | |
| XM_006717708.3:c.167-12540_167-12537delinsGCCA | XP_006717771.1:n.167-12540_167-12537delin... | |
| XM_006717710.4:c.167-12540_167-12537delinsGCCA | XP_006717773.1:n.167-12540_167-12537delin... | |
| XM_017015920.2:c.167-12540_167-12537delinsGCCA | XP_016871409.1:n.167-12540_167-12537delin... | |
| XM_017015921.2:c.167-12540_167-12537delinsGCCA | XP_016871410.1:n.167-12540_167-12537delin... | |
| XM_017015924.2:c.166+15465_166+15468delinsGCCA | XP_016871413.1:n.166+15465_166+15468delin... | |
| XM_017015925.2:c.166+15465_166+15468delinsGCCA | XP_016871414.1:n.166+15465_166+15468delin... | |
| XM_024447887.1:c.167-13665_167-13662delinsGCCA | XP_024303655.1:n.167-13665_167-13662delin... | |
| XM_024447888.1:c.167-13665_167-13662delinsGCCA | XP_024303656.1:n.167-13665_167-13662delin... | |
| XM_024447889.1:c.167-13665_167-13662delinsGCCA | XP_024303657.1:n.167-13665_167-13662delin... | |
| XM_024447890.1:c.167-13665_167-13662delinsGCCA | XP_024303658.1:n.167-13665_167-13662delin... | |
| XM_024447891.1:c.166+15465_166+15468delinsGCCA | XP_024303659.1:n.166+15465_166+15468delin... | |
| NM_000141.5:c.110-12540_110-12537delinsGCCA MANE Select | NP_000132.3:n.110-12540_110-12537delinsGC... | |
| NM_001144917.2:c.110-12540_110-12537delinsGCCA | NP_001138389.1:n.110-12540_110-12537delin... | |
| NM_001144918.2:c.109+15465_109+15468delinsGCCA | NP_001138390.1:n.109+15465_109+15468delin... | |
| NM_001144919.2:c.110-13665_110-13662delinsGCCA | NP_001138391.1:n.110-13665_110-13662delin... | |
| NM_001320658.2:c.110-12540_110-12537delinsGCCA | NP_001307587.1:n.110-12540_110-12537delin... | |
| NR_073009.2:n.742+15465_742+15468delinsGCCA | ||
| NM_001144915.2:c.110-13665_110-13662delinsGCCA | NP_001138387.1:n.110-13665_110-13662delin... | |
| NM_001144916.2:c.109+15465_109+15468delinsGCCA | NP_001138388.1:n.109+15465_109+15468delin... |