UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822445_53822450dup , CM000672.2:g.53822445_53822450dup | GRCh38 |
| NC_000010.10:g.55582205_55582210dup , CM000672.1:g.55582205_55582210dup | GRCh37 |
| NC_000010.9:g.55252211_55252216dup | NCBI36 |
| NG_009191.2:g.983853_983858dup | |
| NG_009191.3:g.1811744_1811749dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2697_4409+2702dup | ENSP00000482794.1:n.4409+2697_4409+2702dup | |
| ENST00000320301.11:c.5287_5292dup MANE Plus Clinical | ENSP00000322604.6:p.Pro1764_Leu1765insAlaPro | |
| ENST00000395445.6:c.4388+4954_4388+4959dup | ENSP00000378832.2:n.4388+4954_4388+4959dup | |
| ENST00000613657.5:c.4409+2697_4409+2702dup | ENSP00000482794.1:n.4409+2697_4409+2702dup | |
| ENST00000642496.1:c.3227-2209_3227-2204dup | ||
| ENST00000644397.2:c.4368-2209_4368-2204dup MANE Select | ENSP00000495195.1:n.4368-2209_4368-2204dup | |
| ENST00000320301.10:c.5287_5292dup | ENSP00000322604.6:p.Pro1764_Leu1765insAlaPro | |
| ENST00000361849.7:c.5293_5298dup | ENSP00000354950.3:p.Pro1766_Leu1767insAlaPro | |
| ENST00000373956.7:c.*3242_*3247dup | ENSP00000363067.4:n.*3242_*3247dup | |
| ENST00000373957.7:c.5308_5313dup | ENSP00000363068.4:p.Pro1771_Leu1772insAlaPro | |
| ENST00000373965.6:c.4373+2697_4373+2702dup | ENSP00000363076.3:n.4373+2697_4373+2702dup | |
| ENST00000395430.5:c.5278_5283dup | ENSP00000378818.1:p.Pro1761_Leu1762insAlaPro | |
| ENST00000395432.6:c.5167_5172dup | ENSP00000378820.2:p.Pro1724_Leu1725insAlaPro | |
| ENST00000395433.5:c.5218_5223dup | ENSP00000378821.1:p.Pro1741_Leu1742insAlaPro | |
| ENST00000395438.5:c.4371+4953_4371+4958dup | ENSP00000378826.2:n.4371+4953_4371+4958dup | |
| ENST00000395440.5:c.1306-12893_1306-12888dup | ENSP00000378827.1:n.1306-12893_1306-12888dup | |
| ENST00000395442.5:c.1099-12893_1099-12888dup | ENSP00000378829.1:n.1099-12893_1099-12888dup | |
| ENST00000395445.5:c.4388+4954_4388+4959dup | ENSP00000378832.2:n.4388+4954_4388+4959dup | |
| ENST00000395446.5:c.2092-12893_2092-12888dup | ENSP00000378833.1:n.2092-12893_2092-12888dup | |
| ENST00000409834.5:c.3206+2697_3206+2702dup | ENSP00000386693.1:n.3206+2697_3206+2702dup | |
| ENST00000414367.5:c.*447+4954_*447+4959dup | ENSP00000412531.1:n.*447+4954_*447+4959dup | |
| ENST00000414778.5:c.4370+4954_4370+4959dup | ENSP00000410304.2:n.4370+4954_4370+4959dup | |
| ENST00000437009.5:c.5080_5085dup | ENSP00000412628.2:p.Pro1695_Leu1696insAlaPro | |
| ENST00000448885.5:c.*3248_*3253dup | ENSP00000412320.1:n.*3248_*3253dup | |
| ENST00000463095.2:n.2306_2311dup | ||
| ENST00000495484.5:c.462-4426_462-4421dup | ENSP00000480780.1:n.462-4426_462-4421dup | |
| ENST00000612394.4:c.4406+4954_4406+4959dup | ENSP00000482921.1:n.4406+4954_4406+4959dup | |
| ENST00000613657.4:c.4409+2697_4409+2702dup | ENSP00000482794.1:n.4409+2697_4409+2702dup | |
| ENST00000614895.4:c.4385+4954_4385+4959dup | ENSP00000478512.1:n.4385+4954_4385+4959dup | |
| ENST00000616114.4:c.4367+4954_4367+4959dup | ENSP00000483745.1:n.4367+4954_4367+4959dup | |
| ENST00000617051.4:c.5314_5319dup | ENSP00000484703.1:p.Pro1773_Leu1774insAlaPro | |
| ENST00000617271.4:c.4373+2697_4373+2702dup | ENSP00000478076.1:n.4373+2697_4373+2702dup | |
| ENST00000618301.4:c.594-4426_594-4421dup | ENSP00000482780.1:n.594-4426_594-4421dup | |
| ENST00000621708.4:c.4388+2697_4388+2702dup | ENSP00000484454.1:n.4388+2697_4388+2702dup | |
| ENST00000622048.4:c.5086_5091dup | ENSP00000482329.1:p.Pro1697_Leu1698insAlaPro | |
| NM_001142763.1:c.5308_5313dup | NP_001136235.1:p.Pro1771_Leu1772insAlaPro | |
| NM_001142764.1:c.5293_5298dup | NP_001136236.1:p.Pro1766_Leu1767insAlaPro | |
| NM_001142765.1:c.5080_5085dup | NP_001136237.1:p.Pro1695_Leu1696insAlaPro | |
| NM_001142766.1:c.5278_5283dup | NP_001136238.1:p.Pro1761_Leu1762insAlaPro | |
| NM_001142767.1:c.5167_5172dup | NP_001136239.1:p.Pro1724_Leu1725insAlaPro | |
| NM_001142768.1:c.5227_5232dup | NP_001136240.1:p.Pro1744_Leu1745insAlaPro | |
| NM_001142769.1:c.4409+2697_4409+2702dup | NP_001136241.1:n.4409+2697_4409+2702dup | |
| NM_001142770.1:c.4373+2697_4373+2702dup | NP_001136242.1:n.4373+2697_4373+2702dup | |
| NM_001142771.1:c.4388+2697_4388+2702dup | NP_001136243.1:n.4388+2697_4388+2702dup | |
| NM_001142772.1:c.4373+2697_4373+2702dup | NP_001136244.1:n.4373+2697_4373+2702dup | |
| NM_001142773.1:c.5218_5223dup | NP_001136245.1:p.Pro1741_Leu1742insAlaPro | |
| NM_033056.3:c.5287_5292dup | NP_149045.3:p.Pro1764_Leu1765insAlaPro | |
| NM_001142769.2:c.4409+2697_4409+2702dup | NP_001136241.1:n.4409+2697_4409+2702dup | |
| NM_001142770.2:c.4373+2697_4373+2702dup | NP_001136242.1:n.4373+2697_4373+2702dup | |
| NM_001354404.1:c.5221_5226dup | NP_001341333.1:p.Pro1742_Leu1743insAlaPro | |
| NM_001354411.1:c.4388+4954_4388+4959dup | NP_001341340.1:n.4388+4954_4388+4959dup | |
| NM_001354420.1:c.4367+4954_4367+4959dup | NP_001341349.1:n.4367+4954_4367+4959dup | |
| NM_001354429.1:c.4368-4426_4368-4421dup | NP_001341358.1:n.4368-4426_4368-4421dup | |
| XM_017016573.2:c.4388+2697_4388+2702dup | XP_016872062.1:n.4388+2697_4388+2702dup | |
| XR_001747192.2:n.6300_6305dup | ||
| XR_001747193.2:n.6291_6296dup | ||
| NM_001142763.2:c.5308_5313dup | NP_001136235.1:p.Pro1771_Leu1772insAlaPro | |
| NM_001142764.2:c.5293_5298dup | NP_001136236.1:p.Pro1766_Leu1767insAlaPro | |
| NM_001142765.2:c.5080_5085dup | NP_001136237.1:p.Pro1695_Leu1696insAlaPro | |
| NM_001142766.2:c.5278_5283dup | NP_001136238.1:p.Pro1761_Leu1762insAlaPro | |
| NM_001142768.2:c.5227_5232dup | NP_001136240.1:p.Pro1744_Leu1745insAlaPro | |
| NM_001142769.3:c.4409+2697_4409+2702dup | NP_001136241.1:n.4409+2697_4409+2702dup | |
| NM_001142770.3:c.4373+2697_4373+2702dup | NP_001136242.1:n.4373+2697_4373+2702dup | |
| NM_001142771.2:c.4388+2697_4388+2702dup | NP_001136243.1:n.4388+2697_4388+2702dup | |
| NM_001142772.2:c.4373+2697_4373+2702dup | NP_001136244.1:n.4373+2697_4373+2702dup | |
| NM_001142773.2:c.5218_5223dup | NP_001136245.1:p.Pro1741_Leu1742insAlaPro | |
| NM_001354411.2:c.4388+4954_4388+4959dup | NP_001341340.1:n.4388+4954_4388+4959dup | |
| NM_001354420.2:c.4367+4954_4367+4959dup | NP_001341349.1:n.4367+4954_4367+4959dup | |
| NM_001354429.2:c.4368-4426_4368-4421dup | NP_001341358.1:n.4368-4426_4368-4421dup | |
| NM_033056.4:c.5287_5292dup MANE Plus Clinical | NP_149045.3:p.Pro1764_Leu1765insAlaPro | |
| NM_001142767.2:c.5167_5172dup | NP_001136239.1:p.Pro1724_Leu1725insAlaPro | |
| NM_001354404.2:c.5221_5226dup | NP_001341333.1:p.Pro1742_Leu1743insAlaPro | |
| NM_001384140.1:c.4368-2209_4368-2204dup MANE Select | NP_001371069.1:n.4368-2209_4368-2204dup |