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.
Linked Data
gnomAD v4:
20-58891737-TCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58891738_58891739del , CM000682.2:g.58891738_58891739del | GRCh38 |
| NC_000020.10:g.57466793_57466794del , CM000682.1:g.57466793_57466794del | GRCh37 |
| NC_000020.9:g.56900188_56900189del | NCBI36 |
| NG_016194.1:g.56999_57000del | |
| NG_016194.2:g.56999_57000del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349036.9:c.2069-3874_2069-3873del | ENSP00000265621.6:n.2069-3874_2069-3873de... | |
| ENST00000419558.7:c.*43-3874_*43-3873del | ENSP00000416234.2:n.*43-3874_*43-3873del | |
| ENST00000423897.7:c.2069-3874_2069-3873del | ENSP00000412356.2:n.2069-3874_2069-3873de... | |
| ENST00000453292.7:c.781-3874_781-3873del | ENSP00000392000.2:n.781-3874_781-3873del | |
| ENST00000462499.6:c.-38-3874_-38-3873del | ENSP00000499758.2:n.-38-3874_-38-3873del | |
| ENST00000464624.7:c.2160-3874_2160-3873del | ENSP00000499607.2:n.2160-3874_2160-3873de... | |
| ENST00000464788.6:c.-39+2525_-39+2526del | ENSP00000499239.2:n.-39+2525_-39+2526del | |
| ENST00000467227.6:c.-38-3874_-38-3873del | ENSP00000499681.2:n.-38-3874_-38-3873del | |
| ENST00000467321.6:c.-39+2692_-39+2693del | ENSP00000499523.2:n.-39+2692_-39+2693del | |
| ENST00000468895.6:c.12_13del | ENSP00000499551.2:p.Gly5GlufsTer3 | |
| ENST00000469431.6:c.-39+2332_-39+2333del | ENSP00000499654.2:n.-39+2332_-39+2333del | |
| ENST00000470512.6:c.-39+2385_-39+2386del | ENSP00000499552.2:n.-39+2385_-39+2386del | |
| ENST00000472183.6:c.-38-3874_-38-3873del | ENSP00000499673.2:n.-38-3874_-38-3873del | |
| ENST00000478585.6:c.-39+2385_-39+2386del | ENSP00000499762.2:n.-39+2385_-39+2386del | |
| ENST00000480232.6:c.-39+2189_-39+2190del | ENSP00000499545.2:n.-39+2189_-39+2190del | |
| ENST00000481039.6:c.-39+2830_-39+2831del | ENSP00000499767.2:n.-39+2830_-39+2831del | |
| ENST00000482112.6:c.-38-3874_-38-3873del | ENSP00000499794.2:n.-38-3874_-38-3873del | |
| ENST00000485673.6:c.-39+2189_-39+2190del | ENSP00000499334.2:n.-39+2189_-39+2190del | |
| ENST00000488546.6:c.-39+2920_-39+2921del | ENSP00000499332.2:n.-39+2920_-39+2921del | |
| ENST00000604005.6:c.-39+2406_-39+2407del | ENSP00000474219.2:n.-39+2406_-39+2407del | |
| ENST00000663479.2:c.-38-3874_-38-3873del | ENSP00000499353.2:n.-38-3874_-38-3873del | |
| ENST00000667293.2:c.-39+2834_-39+2835del | ENSP00000499293.2:n.-39+2834_-39+2835del | |
| ENST00000676826.2:c.2069-3874_2069-3873del | ENSP00000504675.2:n.2069-3874_2069-3873de... | |
| ENST00000683015.1:c.909+949_909+950del | ENSP00000506815.1:n.909+949_909+950del | |
| ENST00000306090.12:c.44-3874_44-3873del | ENSP00000304472.12:n.44-3874_44-3873del | |
| ENST00000338783.7:c.12_13del | ENSP00000345971.7:p.Gly5GlufsTer3 | |
| ENST00000349036.8:c.2069-3874_2069-3873del | ENSP00000265621.5:n.2069-3874_2069-3873de... | |
| ENST00000354359.12:c.12_13del | ENSP00000346328.7:p.Gly5GlufsTer3 | |
| ENST00000371085.8:c.12_13del MANE Select | ENSP00000360126.3:p.Gly5GlufsTer3 | |
| ENST00000371100.9:c.2069-3874_2069-3873del MANE Plus Clinical | ENSP00000360141.3:n.2069-3874_2069-3873de... | |
| ENST00000419558.6:c.*43-3874_*43-3873del | ENSP00000416234.2:n.*43-3874_*43-3873del | |
| ENST00000423897.6:c.2069-3874_2069-3873del | ENSP00000412356.2:n.2069-3874_2069-3873de... | |
| ENST00000453292.6:c.*43-3874_*43-3873del | ENSP00000392000.2:n.*43-3874_*43-3873del | |
| ENST00000461152.6:c.909+949_909+950del | ENSP00000499274.1:n.909+949_909+950del | |
| ENST00000481768.6:c.2227-3874_2227-3873del | ENSP00000499644.2:n.2227-3874_2227-3873de... | |
| ENST00000490374.6:n.223-3874_223-3873del | ||
| ENST00000657090.1:c.-38-3874_-38-3873del | ENSP00000499380.1:n.-38-3874_-38-3873del | |
| ENST00000663479.1:c.-38-3874_-38-3873del | ENSP00000499353.1:n.-38-3874_-38-3873del | |
| ENST00000667293.1:c.11-3874_11-3873del | ENSP00000499293.1:n.11-3874_11-3873del | |
| ENST00000676826.1:c.2069-3874_2069-3873del | ENSP00000504675.1:n.2069-3874_2069-3873de... | |
| ENST00000265620.11:c.12_13del | ENSP00000265620.7:p.Gly5GlufsTer3 | |
| ENST00000306090.11:c.12_13del | ENSP00000304472.11:p.Gly5GlufsTer3 | |
| ENST00000313949.11:c.*43-3874_*43-3873del | ENSP00000323571.7:n.*43-3874_*43-3873del | |
| ENST00000349036.7:c.188-3874_188-3873del | ENSP00000265621.4:n.188-3874_188-3873del | |
| ENST00000354359.11:c.12_13del | ENSP00000346328.7:p.Gly5GlufsTer3 | |
| ENST00000371075.7:c.*43-3874_*43-3873del MANE Plus Clinical | ENSP00000360115.3:n.*43-3874_*43-3873del | |
| ENST00000371081.5:c.12_13del | ENSP00000360122.1:p.Gly5GlufsTer3 | |
| ENST00000371085.7:c.12_13del | ENSP00000360126.3:p.Gly5GlufsTer3 | |
| ENST00000371095.7:c.12_13del | ENSP00000360136.3:p.Gly5GlufsTer3 | |
| ENST00000371098.6:c.*43-3874_*43-3873del | ENSP00000360139.2:n.*43-3874_*43-3873del | |
| ENST00000371100.8:c.2069-3874_2069-3873del | ENSP00000360141.3:n.2069-3874_2069-3873de... | |
| ENST00000371102.8:c.2069-3874_2069-3873del | ENSP00000360143.4:n.2069-3874_2069-3873de... | |
| ENST00000419558.5:c.384-3874_384-3873del | ||
| ENST00000423897.5:c.157-3874_157-3873del | ||
| ENST00000450130.5:c.228-3874_228-3873del | ||
| ENST00000453292.5:c.544-3874_544-3873del | ENSP00000392000.1:n.544-3874_544-3873del | |
| ENST00000461152.5:n.147+949_147+950del | ||
| ENST00000462499.5:n.259-3874_259-3873del | ||
| ENST00000464624.6:n.2228_2229del | ||
| ENST00000464788.5:n.67+2525_67+2526del | ||
| ENST00000464960.5:n.406+2920_406+2921del | ||
| ENST00000467227.5:n.123-3874_123-3873del | ||
| ENST00000467321.5:n.154+2692_154+2693del | ||
| ENST00000468895.5:n.50+2830_50+2831del | ||
| ENST00000469431.5:n.256+2332_256+2333del | ||
| ENST00000470512.5:n.210+2385_210+2386del | ||
| ENST00000472183.5:n.392-3874_392-3873del | ||
| ENST00000477931.5:n.254+2385_254+2386del | ||
| ENST00000478585.5:n.194+2385_194+2386del | ||
| ENST00000480232.5:n.155+2189_155+2190del | ||
| ENST00000480975.5:n.183+2385_183+2386del | ||
| ENST00000481039.5:n.56+2834_56+2835del | ||
| ENST00000481768.5:n.1324-3874_1324-3873del | ||
| ENST00000482112.5:n.259-3874_259-3873del | ||
| ENST00000484504.5:n.127+2385_127+2386del | ||
| ENST00000485673.5:n.426+2189_426+2190del | ||
| ENST00000488546.5:n.40+2920_40+2921del | ||
| ENST00000490374.5:n.255-3874_255-3873del | ||
| ENST00000491348.5:n.534-3874_534-3873del | ||
| ENST00000493744.5:n.233-3874_233-3873del | ||
| ENST00000604005.5:c.-39+2406_-39+2407del | ENSP00000474219.1:n.-39+2406_-39+2407del | |
| NM_000516.4:c.12_13del | NP_000507.1:p.Gly5GlufsTer3 | |
| NM_000516.5:c.12_13del | NP_000507.1:p.Gly5GlufsTer3 | |
| NM_001077488.2:c.12_13del | NP_001070956.1:p.Gly5GlufsTer3 | |
| NM_001077488.3:c.12_13del | NP_001070956.1:p.Gly5GlufsTer3 | |
| NM_001077489.2:c.12_13del | NP_001070957.1:p.Gly5GlufsTer3 | |
| NM_001077489.3:c.12_13del | NP_001070957.1:p.Gly5GlufsTer3 | |
| NM_001077490.1:c.*1-3874_*1-3873del | NP_001070958.1:n.*1-3874_*1-3873del | |
| NM_001077490.2:c.*1-3874_*1-3873del | NP_001070958.1:n.*1-3874_*1-3873del | |
| NM_001309840.1:c.-39+2385_-39+2386del | NP_001296769.1:n.-39+2385_-39+2386del | |
| NM_001309842.1:c.12_13del | NP_001296771.1:p.Gly5GlufsTer3 | |
| NM_001309861.1:c.-38-3874_-38-3873del | NP_001296790.1:n.-38-3874_-38-3873del | |
| NM_001309883.1:c.*159-3874_*159-3873del | NP_001296812.1:n.*159-3874_*159-3873del | |
| NM_016592.2:c.*43-3874_*43-3873del | NP_057676.1:n.*43-3874_*43-3873del | |
| NM_016592.3:c.*43-3874_*43-3873del | NP_057676.1:n.*43-3874_*43-3873del | |
| NM_080425.2:c.2069-3874_2069-3873del | NP_536350.2:n.2069-3874_2069-3873del | |
| NM_080425.3:c.2069-3874_2069-3873del | NP_536350.2:n.2069-3874_2069-3873del | |
| NM_080426.2:c.12_13del | NP_536351.1:p.Gly5GlufsTer3 | |
| NM_080426.3:c.12_13del | NP_536351.1:p.Gly5GlufsTer3 | |
| NR_003259.1:c.-4294967067+2385_-4294967067+2386del | ||
| NR_132273.1:n.406+2920_406+2921del | ||
| XM_017027812.2:c.2069-3874_2069-3873del | XP_016883301.1:n.2069-3874_2069-3873del | |
| XM_017027813.2:c.2069-3874_2069-3873del | XP_016883302.1:n.2069-3874_2069-3873del | |
| XM_017027814.2:c.2069-3874_2069-3873del | XP_016883303.1:n.2069-3874_2069-3873del | |
| XM_017027815.1:c.44-3874_44-3873del | XP_016883304.1:n.44-3874_44-3873del | |
| XM_017027816.1:c.-293_-292del | XP_016883305.1:n.-293_-292del | |
| XM_017027817.1:c.-39+2385_-39+2386del | XP_016883306.1:n.-39+2385_-39+2386del | |
| XM_017027819.1:c.-39+2406_-39+2407del | XP_016883308.1:n.-39+2406_-39+2407del | |
| XM_017027821.1:c.*43-3874_*43-3873del | XP_016883310.1:n.*43-3874_*43-3873del | |
| XM_017027822.1:c.*43-3874_*43-3873del | XP_016883311.1:n.*43-3874_*43-3873del | |
| XM_024451872.1:c.44-3874_44-3873del | XP_024307640.1:n.44-3874_44-3873del | |
| XM_024451875.1:c.-39+2406_-39+2407del | XP_024307643.1:n.-39+2406_-39+2407del | |
| XR_002958471.1:n.637_638del | ||
| NM_000516.6:c.12_13del | NP_000507.1:p.Gly5GlufsTer3 | |
| NM_001077488.4:c.12_13del | NP_001070956.1:p.Gly5GlufsTer3 | |
| NM_001077489.4:c.12_13del | NP_001070957.1:p.Gly5GlufsTer3 | |
| NM_001309840.2:c.-39+2385_-39+2386del | NP_001296769.1:n.-39+2385_-39+2386del | |
| NM_001309842.2:c.12_13del | NP_001296771.1:p.Gly5GlufsTer3 | |
| NM_001309861.2:c.-38-3874_-38-3873del | NP_001296790.1:n.-38-3874_-38-3873del | |
| NM_016592.4:c.*43-3874_*43-3873del | NP_057676.1:n.*43-3874_*43-3873del | |
| NM_080426.4:c.12_13del | NP_536351.1:p.Gly5GlufsTer3 | |
| NM_000516.7:c.12_13del MANE Select | NP_000507.1:p.Gly5GlufsTer3 | |
| NM_001077488.5:c.12_13del | NP_001070956.1:p.Gly5GlufsTer3 | |
| NM_001077490.3:c.*1-3874_*1-3873del | NP_001070958.1:n.*1-3874_*1-3873del | |
| NM_016592.5:c.*43-3874_*43-3873del MANE Plus Clinical | NP_057676.1:n.*43-3874_*43-3873del | |
| NM_080425.4:c.2069-3874_2069-3873del MANE Plus Clinical | NP_536350.2:n.2069-3874_2069-3873del |