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.53823244_53823261delinsCTTGTGAGCCTCAATAGT , CM000672.2:g.53823244_53823261delinsCTTGTGAGCCTCAATAGT | GRCh38 |
| NC_000010.10:g.55583004_55583021delinsCTTGTGAGCCTCAATAGT , CM000672.1:g.55583004_55583021delinsCTTGTGAGCCTCAATAGT | GRCh37 |
| NC_000010.9:g.55253010_55253027delinsCTTGTGAGCCTCAATAGT | NCBI36 |
| NG_009191.2:g.983031_983048delinsACTATTGAGGCTCACAAG | |
| NG_009191.3:g.1810922_1810939delinsACTATTGAGGCTCACAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+1875_4409+1892delinsACTATTGAGGCTCACAAG | ENSP00000482794.1:n.4409+1875_4409+1892de... | |
| ENST00000320301.11:c.4465_4482delinsACTATTGAGGCTCACAAG MANE Plus Clinical | ENSP00000322604.6:p.Thr1489= | |
| ENST00000395445.6:c.4388+4132_4388+4149delinsACTATTGAGGCTCACAAG | ENSP00000378832.2:n.4388+4132_4388+4149de... | |
| ENST00000613657.5:c.4409+1875_4409+1892delinsACTATTGAGGCTCACAAG | ENSP00000482794.1:n.4409+1875_4409+1892de... | |
| ENST00000642496.1:c.3227-3031_3227-3014delinsACTATTGAGGCTCACAAG | ||
| ENST00000644397.2:c.4368-3031_4368-3014delinsACTATTGAGGCTCACAAG MANE Select | ENSP00000495195.1:n.4368-3031_4368-3014de... | |
| ENST00000320301.10:c.4465_4482delinsACTATTGAGGCTCACAAG | ENSP00000322604.6:p.Thr1489= | |
| ENST00000361849.7:c.4471_4488delinsACTATTGAGGCTCACAAG | ENSP00000354950.3:p.Thr1491= | |
| ENST00000373956.7:c.*2420_*2437delinsACTATTGAGGCTCACAAG | ENSP00000363067.4:n.*2420_*2437delinsACTA... | |
| ENST00000373957.7:c.4486_4503delinsACTATTGAGGCTCACAAG | ENSP00000363068.4:p.Thr1496= | |
| ENST00000373965.6:c.4373+1875_4373+1892delinsACTATTGAGGCTCACAAG | ENSP00000363076.3:n.4373+1875_4373+1892de... | |
| ENST00000395430.5:c.4456_4473delinsACTATTGAGGCTCACAAG | ENSP00000378818.1:p.Thr1486= | |
| ENST00000395432.6:c.4345_4362delinsACTATTGAGGCTCACAAG | ENSP00000378820.2:p.Thr1449= | |
| ENST00000395433.5:c.4396_4413delinsACTATTGAGGCTCACAAG | ENSP00000378821.1:p.Thr1466= | |
| ENST00000395438.5:c.4371+4131_4371+4148delinsACTATTGAGGCTCACAAG | ENSP00000378826.2:n.4371+4131_4371+4148de... | |
| ENST00000395440.5:c.1306-13715_1306-13698delinsACTATTGAGGCTCACAAG | ENSP00000378827.1:n.1306-13715_1306-13698... | |
| ENST00000395442.5:c.1099-13715_1099-13698delinsACTATTGAGGCTCACAAG | ENSP00000378829.1:n.1099-13715_1099-13698... | |
| ENST00000395445.5:c.4388+4132_4388+4149delinsACTATTGAGGCTCACAAG | ENSP00000378832.2:n.4388+4132_4388+4149de... | |
| ENST00000395446.5:c.2092-13715_2092-13698delinsACTATTGAGGCTCACAAG | ENSP00000378833.1:n.2092-13715_2092-13698... | |
| ENST00000409834.5:c.3206+1875_3206+1892delinsACTATTGAGGCTCACAAG | ENSP00000386693.1:n.3206+1875_3206+1892de... | |
| ENST00000414367.5:c.*447+4132_*447+4149delinsACTATTGAGGCTCACAAG | ENSP00000412531.1:n.*447+4132_*447+4149de... | |
| ENST00000414778.5:c.4370+4132_4370+4149delinsACTATTGAGGCTCACAAG | ENSP00000410304.2:n.4370+4132_4370+4149de... | |
| ENST00000437009.5:c.4258_4275delinsACTATTGAGGCTCACAAG | ENSP00000412628.2:p.Thr1420= | |
| ENST00000448885.5:c.*2426_*2443delinsACTATTGAGGCTCACAAG | ENSP00000412320.1:n.*2426_*2443delinsACTA... | |
| ENST00000463095.2:n.1484_1501delinsACTATTGAGGCTCACAAG | ||
| ENST00000495484.5:c.462-5248_462-5231delinsACTATTGAGGCTCACAAG | ENSP00000480780.1:n.462-5248_462-5231deli... | |
| ENST00000612394.4:c.4406+4132_4406+4149delinsACTATTGAGGCTCACAAG | ENSP00000482921.1:n.4406+4132_4406+4149de... | |
| ENST00000613657.4:c.4409+1875_4409+1892delinsACTATTGAGGCTCACAAG | ENSP00000482794.1:n.4409+1875_4409+1892de... | |
| ENST00000614895.4:c.4385+4132_4385+4149delinsACTATTGAGGCTCACAAG | ENSP00000478512.1:n.4385+4132_4385+4149de... | |
| ENST00000616114.4:c.4367+4132_4367+4149delinsACTATTGAGGCTCACAAG | ENSP00000483745.1:n.4367+4132_4367+4149de... | |
| ENST00000617051.4:c.4492_4509delinsACTATTGAGGCTCACAAG | ENSP00000484703.1:p.Thr1498= | |
| ENST00000617271.4:c.4373+1875_4373+1892delinsACTATTGAGGCTCACAAG | ENSP00000478076.1:n.4373+1875_4373+1892de... | |
| ENST00000618301.4:c.593+4132_593+4149delinsACTATTGAGGCTCACAAG | ENSP00000482780.1:n.593+4132_593+4149deli... | |
| ENST00000621708.4:c.4388+1875_4388+1892delinsACTATTGAGGCTCACAAG | ENSP00000484454.1:n.4388+1875_4388+1892de... | |
| ENST00000622048.4:c.4264_4281delinsACTATTGAGGCTCACAAG | ENSP00000482329.1:p.Thr1422= | |
| NM_001142763.1:c.4486_4503delinsACTATTGAGGCTCACAAG | NP_001136235.1:p.Thr1496= | |
| NM_001142764.1:c.4471_4488delinsACTATTGAGGCTCACAAG | NP_001136236.1:p.Thr1491= | |
| NM_001142765.1:c.4258_4275delinsACTATTGAGGCTCACAAG | NP_001136237.1:p.Thr1420= | |
| NM_001142766.1:c.4456_4473delinsACTATTGAGGCTCACAAG | NP_001136238.1:p.Thr1486= | |
| NM_001142767.1:c.4345_4362delinsACTATTGAGGCTCACAAG | NP_001136239.1:p.Thr1449= | |
| NM_001142768.1:c.4405_4422delinsACTATTGAGGCTCACAAG | NP_001136240.1:p.Thr1469= | |
| NM_001142769.1:c.4409+1875_4409+1892delinsACTATTGAGGCTCACAAG | NP_001136241.1:n.4409+1875_4409+1892delin... | |
| NM_001142770.1:c.4373+1875_4373+1892delinsACTATTGAGGCTCACAAG | NP_001136242.1:n.4373+1875_4373+1892delin... | |
| NM_001142771.1:c.4388+1875_4388+1892delinsACTATTGAGGCTCACAAG | NP_001136243.1:n.4388+1875_4388+1892delin... | |
| NM_001142772.1:c.4373+1875_4373+1892delinsACTATTGAGGCTCACAAG | NP_001136244.1:n.4373+1875_4373+1892delin... | |
| NM_001142773.1:c.4396_4413delinsACTATTGAGGCTCACAAG | NP_001136245.1:p.Thr1466= | |
| NM_033056.3:c.4465_4482delinsACTATTGAGGCTCACAAG | NP_149045.3:p.Thr1489= | |
| NM_001142769.2:c.4409+1875_4409+1892delinsACTATTGAGGCTCACAAG | NP_001136241.1:n.4409+1875_4409+1892delin... | |
| NM_001142770.2:c.4373+1875_4373+1892delinsACTATTGAGGCTCACAAG | NP_001136242.1:n.4373+1875_4373+1892delin... | |
| NM_001354404.1:c.4399_4416delinsACTATTGAGGCTCACAAG | NP_001341333.1:p.Thr1467= | |
| NM_001354411.1:c.4388+4132_4388+4149delinsACTATTGAGGCTCACAAG | NP_001341340.1:n.4388+4132_4388+4149delin... | |
| NM_001354420.1:c.4367+4132_4367+4149delinsACTATTGAGGCTCACAAG | NP_001341349.1:n.4367+4132_4367+4149delin... | |
| NM_001354429.1:c.4367+4132_4367+4149delinsACTATTGAGGCTCACAAG | NP_001341358.1:n.4367+4132_4367+4149delin... | |
| XM_017016573.2:c.4388+1875_4388+1892delinsACTATTGAGGCTCACAAG | XP_016872062.1:n.4388+1875_4388+1892delin... | |
| XR_001747192.2:n.5478_5495delinsACTATTGAGGCTCACAAG | ||
| XR_001747193.2:n.5469_5486delinsACTATTGAGGCTCACAAG | ||
| NM_001142763.2:c.4486_4503delinsACTATTGAGGCTCACAAG | NP_001136235.1:p.Thr1496= | |
| NM_001142764.2:c.4471_4488delinsACTATTGAGGCTCACAAG | NP_001136236.1:p.Thr1491= | |
| NM_001142765.2:c.4258_4275delinsACTATTGAGGCTCACAAG | NP_001136237.1:p.Thr1420= | |
| NM_001142766.2:c.4456_4473delinsACTATTGAGGCTCACAAG | NP_001136238.1:p.Thr1486= | |
| NM_001142768.2:c.4405_4422delinsACTATTGAGGCTCACAAG | NP_001136240.1:p.Thr1469= | |
| NM_001142769.3:c.4409+1875_4409+1892delinsACTATTGAGGCTCACAAG | NP_001136241.1:n.4409+1875_4409+1892delin... | |
| NM_001142770.3:c.4373+1875_4373+1892delinsACTATTGAGGCTCACAAG | NP_001136242.1:n.4373+1875_4373+1892delin... | |
| NM_001142771.2:c.4388+1875_4388+1892delinsACTATTGAGGCTCACAAG | NP_001136243.1:n.4388+1875_4388+1892delin... | |
| NM_001142772.2:c.4373+1875_4373+1892delinsACTATTGAGGCTCACAAG | NP_001136244.1:n.4373+1875_4373+1892delin... | |
| NM_001142773.2:c.4396_4413delinsACTATTGAGGCTCACAAG | NP_001136245.1:p.Thr1466= | |
| NM_001354411.2:c.4388+4132_4388+4149delinsACTATTGAGGCTCACAAG | NP_001341340.1:n.4388+4132_4388+4149delin... | |
| NM_001354420.2:c.4367+4132_4367+4149delinsACTATTGAGGCTCACAAG | NP_001341349.1:n.4367+4132_4367+4149delin... | |
| NM_001354429.2:c.4367+4132_4367+4149delinsACTATTGAGGCTCACAAG | NP_001341358.1:n.4367+4132_4367+4149delin... | |
| NM_033056.4:c.4465_4482delinsACTATTGAGGCTCACAAG MANE Plus Clinical | NP_149045.3:p.Thr1489= | |
| NM_001142767.2:c.4345_4362delinsACTATTGAGGCTCACAAG | NP_001136239.1:p.Thr1449= | |
| NM_001354404.2:c.4399_4416delinsACTATTGAGGCTCACAAG | NP_001341333.1:p.Thr1467= | |
| NM_001384140.1:c.4368-3031_4368-3014delinsACTATTGAGGCTCACAAG MANE Select | NP_001371069.1:n.4368-3031_4368-3014delin... |