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.53822406_53822460delinsAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCAGGAGGAGGAGAAGG , CM000672.2:g.53822406_53822460delinsAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCAGGAGGAGGAGAAGG | GRCh38 |
| NC_000010.10:g.55582166_55582220delinsAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCAGGAGGAGGAGAAGG , CM000672.1:g.55582166_55582220delinsAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCAGGAGGAGGAGAAGG | GRCh37 |
| NC_000010.9:g.55252172_55252226delinsAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCAGGAGGAGGAGAAGG | NCBI36 |
| NG_009191.2:g.983832_983886delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | |
| NG_009191.3:g.1811723_1811777delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000482794.1:n.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTG... | |
| ENST00000320301.11:c.5266_5320delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT MANE Plus Clinical | ENSP00000322604.6:p.Pro1756= | |
| ENST00000395445.6:c.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000378832.2:n.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTG... | |
| ENST00000613657.5:c.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000482794.1:n.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTG... | |
| ENST00000642496.1:c.3227-2230_3227-2176delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ||
| ENST00000644397.2:c.4368-2230_4368-2176delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT MANE Select | ENSP00000495195.1:n.4368-2230_4368-2176delinsCCTTCTCCTCCTCCTG... | |
| ENST00000320301.10:c.5266_5320delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000322604.6:p.Pro1756= | |
| ENST00000361849.7:c.5272_5326delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000354950.3:p.Pro1758= | |
| ENST00000373956.7:c.*3221_*3275delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000363067.4:n.*3221_*3275delinsCCTTCTCCTCCTCCTGCTCCTGCT... | |
| ENST00000373957.7:c.5287_5341delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000363068.4:p.Pro1763= | |
| ENST00000373965.6:c.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000363076.3:n.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTG... | |
| ENST00000395430.5:c.5257_5311delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000378818.1:p.Pro1753= | |
| ENST00000395432.6:c.5146_5200delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000378820.2:p.Pro1716= | |
| ENST00000395433.5:c.5197_5251delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000378821.1:p.Pro1733= | |
| ENST00000395438.5:c.4371+4932_4371+4986delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000378826.2:n.4371+4932_4371+4986delinsCCTTCTCCTCCTCCTG... | |
| ENST00000395440.5:c.1306-12914_1306-12860delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000378827.1:n.1306-12914_1306-12860delinsCCTTCTCCTCCTCC... | |
| ENST00000395442.5:c.1099-12914_1099-12860delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000378829.1:n.1099-12914_1099-12860delinsCCTTCTCCTCCTCC... | |
| ENST00000395445.5:c.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000378832.2:n.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTG... | |
| ENST00000395446.5:c.2092-12914_2092-12860delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000378833.1:n.2092-12914_2092-12860delinsCCTTCTCCTCCTCC... | |
| ENST00000409834.5:c.3206+2676_3206+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000386693.1:n.3206+2676_3206+2730delinsCCTTCTCCTCCTCCTG... | |
| ENST00000414367.5:c.*447+4933_*447+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000412531.1:n.*447+4933_*447+4987delinsCCTTCTCCTCCTCCTG... | |
| ENST00000414778.5:c.4370+4933_4370+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000410304.2:n.4370+4933_4370+4987delinsCCTTCTCCTCCTCCTG... | |
| ENST00000437009.5:c.5059_5113delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000412628.2:p.Pro1687= | |
| ENST00000448885.5:c.*3227_*3281delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000412320.1:n.*3227_*3281delinsCCTTCTCCTCCTCCTGCTCCTGCT... | |
| ENST00000463095.2:n.2285_2339delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ||
| ENST00000495484.5:c.462-4447_462-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000480780.1:n.462-4447_462-4393delinsCCTTCTCCTCCTCCTGCT... | |
| ENST00000612394.4:c.4406+4933_4406+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000482921.1:n.4406+4933_4406+4987delinsCCTTCTCCTCCTCCTG... | |
| ENST00000613657.4:c.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000482794.1:n.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTG... | |
| ENST00000614895.4:c.4385+4933_4385+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000478512.1:n.4385+4933_4385+4987delinsCCTTCTCCTCCTCCTG... | |
| ENST00000616114.4:c.4367+4933_4367+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000483745.1:n.4367+4933_4367+4987delinsCCTTCTCCTCCTCCTG... | |
| ENST00000617051.4:c.5293_5347delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000484703.1:p.Pro1765= | |
| ENST00000617271.4:c.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000478076.1:n.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTG... | |
| ENST00000618301.4:c.594-4447_594-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000482780.1:n.594-4447_594-4393delinsCCTTCTCCTCCTCCTGCT... | |
| ENST00000621708.4:c.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000484454.1:n.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTG... | |
| ENST00000622048.4:c.5065_5119delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ENSP00000482329.1:p.Pro1689= | |
| NM_001142763.1:c.5287_5341delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136235.1:p.Pro1763= | |
| NM_001142764.1:c.5272_5326delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136236.1:p.Pro1758= | |
| NM_001142765.1:c.5059_5113delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136237.1:p.Pro1687= | |
| NM_001142766.1:c.5257_5311delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136238.1:p.Pro1753= | |
| NM_001142767.1:c.5146_5200delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136239.1:p.Pro1716= | |
| NM_001142768.1:c.5206_5260delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136240.1:p.Pro1736= | |
| NM_001142769.1:c.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136241.1:n.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001142770.1:c.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136242.1:n.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001142771.1:c.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136243.1:n.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001142772.1:c.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136244.1:n.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001142773.1:c.5197_5251delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136245.1:p.Pro1733= | |
| NM_033056.3:c.5266_5320delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_149045.3:p.Pro1756= | |
| NM_001142769.2:c.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136241.1:n.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001142770.2:c.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136242.1:n.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001354404.1:c.5200_5254delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001341333.1:p.Pro1734= | |
| NM_001354411.1:c.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001341340.1:n.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001354420.1:c.4367+4933_4367+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001341349.1:n.4367+4933_4367+4987delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001354429.1:c.4368-4447_4368-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001341358.1:n.4368-4447_4368-4393delinsCCTTCTCCTCCTCCTGCTC... | |
| XM_017016573.2:c.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | XP_016872062.1:n.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| XR_001747192.2:n.6279_6333delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ||
| XR_001747193.2:n.6270_6324delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | ||
| NM_001142763.2:c.5287_5341delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136235.1:p.Pro1763= | |
| NM_001142764.2:c.5272_5326delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136236.1:p.Pro1758= | |
| NM_001142765.2:c.5059_5113delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136237.1:p.Pro1687= | |
| NM_001142766.2:c.5257_5311delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136238.1:p.Pro1753= | |
| NM_001142768.2:c.5206_5260delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136240.1:p.Pro1736= | |
| NM_001142769.3:c.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136241.1:n.4409+2676_4409+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001142770.3:c.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136242.1:n.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001142771.2:c.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136243.1:n.4388+2676_4388+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001142772.2:c.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136244.1:n.4373+2676_4373+2730delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001142773.2:c.5197_5251delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136245.1:p.Pro1733= | |
| NM_001354411.2:c.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001341340.1:n.4388+4933_4388+4987delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001354420.2:c.4367+4933_4367+4987delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001341349.1:n.4367+4933_4367+4987delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_001354429.2:c.4368-4447_4368-4393delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001341358.1:n.4368-4447_4368-4393delinsCCTTCTCCTCCTCCTGCTC... | |
| NM_033056.4:c.5266_5320delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT MANE Plus Clinical | NP_149045.3:p.Pro1756= | |
| NM_001142767.2:c.5146_5200delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001136239.1:p.Pro1716= | |
| NM_001354404.2:c.5200_5254delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT | NP_001341333.1:p.Pro1734= | |
| NM_001384140.1:c.4368-2230_4368-2176delinsCCTTCTCCTCCTCCTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTT MANE Select | NP_001371069.1:n.4368-2230_4368-2176delinsCCTTCTCCTCCTCCTGCTC... |