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.53823359_53823373delinsCTTGAAAGAAAAGAA , CM000672.2:g.53823359_53823373delinsCTTGAAAGAAAAGAA | GRCh38 |
| NC_000010.10:g.55583119_55583133delinsCTTGAAAGAAAAGAA , CM000672.1:g.55583119_55583133delinsCTTGAAAGAAAAGAA | GRCh37 |
| NC_000010.9:g.55253125_55253139delinsCTTGAAAGAAAAGAA | NCBI36 |
| NG_009191.2:g.982919_982933delinsTTCTTTTCTTTCAAG | |
| NG_009191.3:g.1810810_1810824delinsTTCTTTTCTTTCAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+1763_4409+1777delinsTTCTTTTCTTTCAAG | ENSP00000482794.1:n.4409+1763_4409+1777de... | |
| ENST00000320301.11:c.4368-15_4368-1delinsTTCTTTTCTTTCAAG MANE Plus Clinical | ENSP00000322604.6:n.4368-15_4368-1delinsT... | |
| ENST00000395445.6:c.4388+4020_4388+4034delinsTTCTTTTCTTTCAAG | ENSP00000378832.2:n.4388+4020_4388+4034de... | |
| ENST00000613657.5:c.4409+1763_4409+1777delinsTTCTTTTCTTTCAAG | ENSP00000482794.1:n.4409+1763_4409+1777de... | |
| ENST00000642496.1:c.3227-3143_3227-3129delinsTTCTTTTCTTTCAAG | ||
| ENST00000644397.2:c.4368-3143_4368-3129delinsTTCTTTTCTTTCAAG MANE Select | ENSP00000495195.1:n.4368-3143_4368-3129de... | |
| ENST00000320301.10:c.4368-15_4368-1delinsTTCTTTTCTTTCAAG | ENSP00000322604.6:n.4368-15_4368-1delinsT... | |
| ENST00000361849.7:c.4374-15_4374-1delinsTTCTTTTCTTTCAAG | ENSP00000354950.3:n.4374-15_4374-1delinsT... | |
| ENST00000373956.7:c.*2323-15_*2323-1delinsTTCTTTTCTTTCAAG | ENSP00000363067.4:n.*2323-15_*2323-1delin... | |
| ENST00000373957.7:c.4389-15_4389-1delinsTTCTTTTCTTTCAAG | ENSP00000363068.4:n.4389-15_4389-1delinsT... | |
| ENST00000373965.6:c.4373+1763_4373+1777delinsTTCTTTTCTTTCAAG | ENSP00000363076.3:n.4373+1763_4373+1777de... | |
| ENST00000395430.5:c.4359-15_4359-1delinsTTCTTTTCTTTCAAG | ENSP00000378818.1:n.4359-15_4359-1delinsT... | |
| ENST00000395432.6:c.4248-15_4248-1delinsTTCTTTTCTTTCAAG | ENSP00000378820.2:n.4248-15_4248-1delinsT... | |
| ENST00000395433.5:c.4299-15_4299-1delinsTTCTTTTCTTTCAAG | ENSP00000378821.1:n.4299-15_4299-1delinsT... | |
| ENST00000395438.5:c.4371+4019_4371+4033delinsTTCTTTTCTTTCAAG | ENSP00000378826.2:n.4371+4019_4371+4033de... | |
| ENST00000395440.5:c.1306-13827_1306-13813delinsTTCTTTTCTTTCAAG | ENSP00000378827.1:n.1306-13827_1306-13813... | |
| ENST00000395442.5:c.1099-13827_1099-13813delinsTTCTTTTCTTTCAAG | ENSP00000378829.1:n.1099-13827_1099-13813... | |
| ENST00000395445.5:c.4388+4020_4388+4034delinsTTCTTTTCTTTCAAG | ENSP00000378832.2:n.4388+4020_4388+4034de... | |
| ENST00000395446.5:c.2092-13827_2092-13813delinsTTCTTTTCTTTCAAG | ENSP00000378833.1:n.2092-13827_2092-13813... | |
| ENST00000409834.5:c.3206+1763_3206+1777delinsTTCTTTTCTTTCAAG | ENSP00000386693.1:n.3206+1763_3206+1777de... | |
| ENST00000414367.5:c.*447+4020_*447+4034delinsTTCTTTTCTTTCAAG | ENSP00000412531.1:n.*447+4020_*447+4034de... | |
| ENST00000414778.5:c.4370+4020_4370+4034delinsTTCTTTTCTTTCAAG | ENSP00000410304.2:n.4370+4020_4370+4034de... | |
| ENST00000437009.5:c.4161-15_4161-1delinsTTCTTTTCTTTCAAG | ENSP00000412628.2:n.4161-15_4161-1delinsT... | |
| ENST00000448885.5:c.*2329-15_*2329-1delinsTTCTTTTCTTTCAAG | ENSP00000412320.1:n.*2329-15_*2329-1delin... | |
| ENST00000463095.2:n.1387-15_1387-1delinsTTCTTTTCTTTCAAG | ||
| ENST00000495484.5:c.462-5360_462-5346delinsTTCTTTTCTTTCAAG | ENSP00000480780.1:n.462-5360_462-5346deli... | |
| ENST00000612394.4:c.4406+4020_4406+4034delinsTTCTTTTCTTTCAAG | ENSP00000482921.1:n.4406+4020_4406+4034de... | |
| ENST00000613657.4:c.4409+1763_4409+1777delinsTTCTTTTCTTTCAAG | ENSP00000482794.1:n.4409+1763_4409+1777de... | |
| ENST00000614895.4:c.4385+4020_4385+4034delinsTTCTTTTCTTTCAAG | ENSP00000478512.1:n.4385+4020_4385+4034de... | |
| ENST00000616114.4:c.4367+4020_4367+4034delinsTTCTTTTCTTTCAAG | ENSP00000483745.1:n.4367+4020_4367+4034de... | |
| ENST00000617051.4:c.4386-6_4394delinsTTCTTTTCTTTCAAG | ||
| ENST00000617271.4:c.4373+1763_4373+1777delinsTTCTTTTCTTTCAAG | ENSP00000478076.1:n.4373+1763_4373+1777de... | |
| ENST00000618301.4:c.593+4020_593+4034delinsTTCTTTTCTTTCAAG | ENSP00000482780.1:n.593+4020_593+4034deli... | |
| ENST00000621708.4:c.4388+1763_4388+1777delinsTTCTTTTCTTTCAAG | ENSP00000484454.1:n.4388+1763_4388+1777de... | |
| ENST00000622048.4:c.4158-6_4166delinsTTCTTTTCTTTCAAG | ||
| NM_001142763.1:c.4389-15_4389-1delinsTTCTTTTCTTTCAAG | NP_001136235.1:n.4389-15_4389-1delinsTTCT... | |
| NM_001142764.1:c.4374-15_4374-1delinsTTCTTTTCTTTCAAG | NP_001136236.1:n.4374-15_4374-1delinsTTCT... | |
| NM_001142765.1:c.4161-15_4161-1delinsTTCTTTTCTTTCAAG | NP_001136237.1:n.4161-15_4161-1delinsTTCT... | |
| NM_001142766.1:c.4359-15_4359-1delinsTTCTTTTCTTTCAAG | NP_001136238.1:n.4359-15_4359-1delinsTTCT... | |
| NM_001142767.1:c.4248-15_4248-1delinsTTCTTTTCTTTCAAG | NP_001136239.1:n.4248-15_4248-1delinsTTCT... | |
| NM_001142768.1:c.4308-15_4308-1delinsTTCTTTTCTTTCAAG | NP_001136240.1:n.4308-15_4308-1delinsTTCT... | |
| NM_001142769.1:c.4409+1763_4409+1777delinsTTCTTTTCTTTCAAG | NP_001136241.1:n.4409+1763_4409+1777delin... | |
| NM_001142770.1:c.4373+1763_4373+1777delinsTTCTTTTCTTTCAAG | NP_001136242.1:n.4373+1763_4373+1777delin... | |
| NM_001142771.1:c.4388+1763_4388+1777delinsTTCTTTTCTTTCAAG | NP_001136243.1:n.4388+1763_4388+1777delin... | |
| NM_001142772.1:c.4373+1763_4373+1777delinsTTCTTTTCTTTCAAG | NP_001136244.1:n.4373+1763_4373+1777delin... | |
| NM_001142773.1:c.4299-15_4299-1delinsTTCTTTTCTTTCAAG | NP_001136245.1:n.4299-15_4299-1delinsTTCT... | |
| NM_033056.3:c.4368-15_4368-1delinsTTCTTTTCTTTCAAG | NP_149045.3:n.4368-15_4368-1delinsTTCTTTT... | |
| NM_001142769.2:c.4409+1763_4409+1777delinsTTCTTTTCTTTCAAG | NP_001136241.1:n.4409+1763_4409+1777delin... | |
| NM_001142770.2:c.4373+1763_4373+1777delinsTTCTTTTCTTTCAAG | NP_001136242.1:n.4373+1763_4373+1777delin... | |
| NM_001354404.1:c.4302-15_4302-1delinsTTCTTTTCTTTCAAG | NP_001341333.1:n.4302-15_4302-1delinsTTCT... | |
| NM_001354411.1:c.4388+4020_4388+4034delinsTTCTTTTCTTTCAAG | NP_001341340.1:n.4388+4020_4388+4034delin... | |
| NM_001354420.1:c.4367+4020_4367+4034delinsTTCTTTTCTTTCAAG | NP_001341349.1:n.4367+4020_4367+4034delin... | |
| NM_001354429.1:c.4367+4020_4367+4034delinsTTCTTTTCTTTCAAG | NP_001341358.1:n.4367+4020_4367+4034delin... | |
| XM_017016573.2:c.4388+1763_4388+1777delinsTTCTTTTCTTTCAAG | XP_016872062.1:n.4388+1763_4388+1777delin... | |
| XR_001747192.2:n.5381-15_5381-1delinsTTCTTTTCTTTCAAG | ||
| XR_001747193.2:n.5372-15_5372-1delinsTTCTTTTCTTTCAAG | ||
| NM_001142763.2:c.4389-15_4389-1delinsTTCTTTTCTTTCAAG | NP_001136235.1:n.4389-15_4389-1delinsTTCT... | |
| NM_001142764.2:c.4374-15_4374-1delinsTTCTTTTCTTTCAAG | NP_001136236.1:n.4374-15_4374-1delinsTTCT... | |
| NM_001142765.2:c.4161-15_4161-1delinsTTCTTTTCTTTCAAG | NP_001136237.1:n.4161-15_4161-1delinsTTCT... | |
| NM_001142766.2:c.4359-15_4359-1delinsTTCTTTTCTTTCAAG | NP_001136238.1:n.4359-15_4359-1delinsTTCT... | |
| NM_001142768.2:c.4308-15_4308-1delinsTTCTTTTCTTTCAAG | NP_001136240.1:n.4308-15_4308-1delinsTTCT... | |
| NM_001142769.3:c.4409+1763_4409+1777delinsTTCTTTTCTTTCAAG | NP_001136241.1:n.4409+1763_4409+1777delin... | |
| NM_001142770.3:c.4373+1763_4373+1777delinsTTCTTTTCTTTCAAG | NP_001136242.1:n.4373+1763_4373+1777delin... | |
| NM_001142771.2:c.4388+1763_4388+1777delinsTTCTTTTCTTTCAAG | NP_001136243.1:n.4388+1763_4388+1777delin... | |
| NM_001142772.2:c.4373+1763_4373+1777delinsTTCTTTTCTTTCAAG | NP_001136244.1:n.4373+1763_4373+1777delin... | |
| NM_001142773.2:c.4299-15_4299-1delinsTTCTTTTCTTTCAAG | NP_001136245.1:n.4299-15_4299-1delinsTTCT... | |
| NM_001354411.2:c.4388+4020_4388+4034delinsTTCTTTTCTTTCAAG | NP_001341340.1:n.4388+4020_4388+4034delin... | |
| NM_001354420.2:c.4367+4020_4367+4034delinsTTCTTTTCTTTCAAG | NP_001341349.1:n.4367+4020_4367+4034delin... | |
| NM_001354429.2:c.4367+4020_4367+4034delinsTTCTTTTCTTTCAAG | NP_001341358.1:n.4367+4020_4367+4034delin... | |
| NM_033056.4:c.4368-15_4368-1delinsTTCTTTTCTTTCAAG MANE Plus Clinical | NP_149045.3:n.4368-15_4368-1delinsTTCTTTT... | |
| NM_001142767.2:c.4248-15_4248-1delinsTTCTTTTCTTTCAAG | NP_001136239.1:n.4248-15_4248-1delinsTTCT... | |
| NM_001354404.2:c.4302-15_4302-1delinsTTCTTTTCTTTCAAG | NP_001341333.1:n.4302-15_4302-1delinsTTCT... | |
| NM_001384140.1:c.4368-3143_4368-3129delinsTTCTTTTCTTTCAAG MANE Select | NP_001371069.1:n.4368-3143_4368-3129delin... |