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.53823257_53823319dup , CM000672.2:g.53823257_53823319dup | GRCh38 |
| NC_000010.10:g.55583017_55583079dup , CM000672.1:g.55583017_55583079dup | GRCh37 |
| NC_000010.9:g.55253023_55253085dup | NCBI36 |
| NG_009191.2:g.982974_983036dup | |
| NG_009191.3:g.1810865_1810927dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+1818_4409+1880dup | ENSP00000482794.1:n.4409+1818_4409+1880du... | |
| ENST00000320301.11:c.4408_4470dup MANE Plus Clinical | ENSP00000322604.6:p.Ile1490_Glu1491insAsn... | |
| ENST00000395445.6:c.4388+4075_4388+4137dup | ENSP00000378832.2:n.4388+4075_4388+4137du... | |
| ENST00000613657.5:c.4409+1818_4409+1880dup | ENSP00000482794.1:n.4409+1818_4409+1880du... | |
| ENST00000642496.1:c.3227-3088_3227-3026dup | ||
| ENST00000644397.2:c.4368-3088_4368-3026dup MANE Select | ENSP00000495195.1:n.4368-3088_4368-3026du... | |
| ENST00000320301.10:c.4408_4470dup | ENSP00000322604.6:p.Ile1490_Glu1491insAsn... | |
| ENST00000361849.7:c.4414_4476dup | ENSP00000354950.3:p.Ile1492_Glu1493insAsn... | |
| ENST00000373956.7:c.*2363_*2425dup | ENSP00000363067.4:n.*2363_*2425dup | |
| ENST00000373957.7:c.4429_4491dup | ENSP00000363068.4:p.Ile1497_Glu1498insAsn... | |
| ENST00000373965.6:c.4373+1818_4373+1880dup | ENSP00000363076.3:n.4373+1818_4373+1880du... | |
| ENST00000395430.5:c.4399_4461dup | ENSP00000378818.1:p.Ile1487_Glu1488insAsn... | |
| ENST00000395432.6:c.4288_4350dup | ENSP00000378820.2:p.Ile1450_Glu1451insAsn... | |
| ENST00000395433.5:c.4339_4401dup | ENSP00000378821.1:p.Ile1467_Glu1468insAsn... | |
| ENST00000395438.5:c.4371+4074_4371+4136dup | ENSP00000378826.2:n.4371+4074_4371+4136du... | |
| ENST00000395440.5:c.1306-13772_1306-13710dup | ENSP00000378827.1:n.1306-13772_1306-13710... | |
| ENST00000395442.5:c.1099-13772_1099-13710dup | ENSP00000378829.1:n.1099-13772_1099-13710... | |
| ENST00000395445.5:c.4388+4075_4388+4137dup | ENSP00000378832.2:n.4388+4075_4388+4137du... | |
| ENST00000395446.5:c.2092-13772_2092-13710dup | ENSP00000378833.1:n.2092-13772_2092-13710... | |
| ENST00000409834.5:c.3206+1818_3206+1880dup | ENSP00000386693.1:n.3206+1818_3206+1880du... | |
| ENST00000414367.5:c.*447+4075_*447+4137dup | ENSP00000412531.1:n.*447+4075_*447+4137du... | |
| ENST00000414778.5:c.4370+4075_4370+4137dup | ENSP00000410304.2:n.4370+4075_4370+4137du... | |
| ENST00000437009.5:c.4201_4263dup | ENSP00000412628.2:p.Ile1421_Glu1422insAsn... | |
| ENST00000448885.5:c.*2369_*2431dup | ENSP00000412320.1:n.*2369_*2431dup | |
| ENST00000463095.2:n.1427_1489dup | ||
| ENST00000495484.5:c.462-5305_462-5243dup | ENSP00000480780.1:n.462-5305_462-5243dup | |
| ENST00000612394.4:c.4406+4075_4406+4137dup | ENSP00000482921.1:n.4406+4075_4406+4137du... | |
| ENST00000613657.4:c.4409+1818_4409+1880dup | ENSP00000482794.1:n.4409+1818_4409+1880du... | |
| ENST00000614895.4:c.4385+4075_4385+4137dup | ENSP00000478512.1:n.4385+4075_4385+4137du... | |
| ENST00000616114.4:c.4367+4075_4367+4137dup | ENSP00000483745.1:n.4367+4075_4367+4137du... | |
| ENST00000617051.4:c.4435_4497dup | ENSP00000484703.1:p.Ile1499_Glu1500insAsn... | |
| ENST00000617271.4:c.4373+1818_4373+1880dup | ENSP00000478076.1:n.4373+1818_4373+1880du... | |
| ENST00000618301.4:c.593+4075_593+4137dup | ENSP00000482780.1:n.593+4075_593+4137dup | |
| ENST00000621708.4:c.4388+1818_4388+1880dup | ENSP00000484454.1:n.4388+1818_4388+1880du... | |
| ENST00000622048.4:c.4207_4269dup | ENSP00000482329.1:p.Ile1423_Glu1424insAsn... | |
| NM_001142763.1:c.4429_4491dup | NP_001136235.1:p.Ile1497_Glu1498insAsnSer... | |
| NM_001142764.1:c.4414_4476dup | NP_001136236.1:p.Ile1492_Glu1493insAsnSer... | |
| NM_001142765.1:c.4201_4263dup | NP_001136237.1:p.Ile1421_Glu1422insAsnSer... | |
| NM_001142766.1:c.4399_4461dup | NP_001136238.1:p.Ile1487_Glu1488insAsnSer... | |
| NM_001142767.1:c.4288_4350dup | NP_001136239.1:p.Ile1450_Glu1451insAsnSer... | |
| NM_001142768.1:c.4348_4410dup | NP_001136240.1:p.Ile1470_Glu1471insAsnSer... | |
| NM_001142769.1:c.4409+1818_4409+1880dup | NP_001136241.1:n.4409+1818_4409+1880dup | |
| NM_001142770.1:c.4373+1818_4373+1880dup | NP_001136242.1:n.4373+1818_4373+1880dup | |
| NM_001142771.1:c.4388+1818_4388+1880dup | NP_001136243.1:n.4388+1818_4388+1880dup | |
| NM_001142772.1:c.4373+1818_4373+1880dup | NP_001136244.1:n.4373+1818_4373+1880dup | |
| NM_001142773.1:c.4339_4401dup | NP_001136245.1:p.Ile1467_Glu1468insAsnSer... | |
| NM_033056.3:c.4408_4470dup | NP_149045.3:p.Ile1490_Glu1491insAsnSerVal... | |
| NM_001142769.2:c.4409+1818_4409+1880dup | NP_001136241.1:n.4409+1818_4409+1880dup | |
| NM_001142770.2:c.4373+1818_4373+1880dup | NP_001136242.1:n.4373+1818_4373+1880dup | |
| NM_001354404.1:c.4342_4404dup | NP_001341333.1:p.Ile1468_Glu1469insAsnSer... | |
| NM_001354411.1:c.4388+4075_4388+4137dup | NP_001341340.1:n.4388+4075_4388+4137dup | |
| NM_001354420.1:c.4367+4075_4367+4137dup | NP_001341349.1:n.4367+4075_4367+4137dup | |
| NM_001354429.1:c.4367+4075_4367+4137dup | NP_001341358.1:n.4367+4075_4367+4137dup | |
| XM_017016573.2:c.4388+1818_4388+1880dup | XP_016872062.1:n.4388+1818_4388+1880dup | |
| XR_001747192.2:n.5421_5483dup | ||
| XR_001747193.2:n.5412_5474dup | ||
| NM_001142763.2:c.4429_4491dup | NP_001136235.1:p.Ile1497_Glu1498insAsnSer... | |
| NM_001142764.2:c.4414_4476dup | NP_001136236.1:p.Ile1492_Glu1493insAsnSer... | |
| NM_001142765.2:c.4201_4263dup | NP_001136237.1:p.Ile1421_Glu1422insAsnSer... | |
| NM_001142766.2:c.4399_4461dup | NP_001136238.1:p.Ile1487_Glu1488insAsnSer... | |
| NM_001142768.2:c.4348_4410dup | NP_001136240.1:p.Ile1470_Glu1471insAsnSer... | |
| NM_001142769.3:c.4409+1818_4409+1880dup | NP_001136241.1:n.4409+1818_4409+1880dup | |
| NM_001142770.3:c.4373+1818_4373+1880dup | NP_001136242.1:n.4373+1818_4373+1880dup | |
| NM_001142771.2:c.4388+1818_4388+1880dup | NP_001136243.1:n.4388+1818_4388+1880dup | |
| NM_001142772.2:c.4373+1818_4373+1880dup | NP_001136244.1:n.4373+1818_4373+1880dup | |
| NM_001142773.2:c.4339_4401dup | NP_001136245.1:p.Ile1467_Glu1468insAsnSer... | |
| NM_001354411.2:c.4388+4075_4388+4137dup | NP_001341340.1:n.4388+4075_4388+4137dup | |
| NM_001354420.2:c.4367+4075_4367+4137dup | NP_001341349.1:n.4367+4075_4367+4137dup | |
| NM_001354429.2:c.4367+4075_4367+4137dup | NP_001341358.1:n.4367+4075_4367+4137dup | |
| NM_033056.4:c.4408_4470dup MANE Plus Clinical | NP_149045.3:p.Ile1490_Glu1491insAsnSerVal... | |
| NM_001142767.2:c.4288_4350dup | NP_001136239.1:p.Ile1450_Glu1451insAsnSer... | |
| NM_001354404.2:c.4342_4404dup | NP_001341333.1:p.Ile1468_Glu1469insAsnSer... | |
| NM_001384140.1:c.4368-3088_4368-3026dup MANE Select | NP_001371069.1:n.4368-3088_4368-3026dup |