Linked Data
gnomAD v3:
20-58891913-G-GGCGCCCCGCAGGCCGCGC
gnomAD v4:
20-58891913-G-GGCGCCCCGCAGGCCGCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58891919_58891936dup , CM000682.2:g.58891919_58891936dup | GRCh38 |
| NC_000020.10:g.57466974_57466991dup , CM000682.1:g.57466974_57466991dup | GRCh37 |
| NC_000020.9:g.56900369_56900386dup | NCBI36 |
| NG_016194.1:g.57180_57197dup | |
| NG_016194.2:g.57180_57197dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3693_2069-3676dup | ENSP00000265621.6:n.2069-3693_2069-3676dup | |
| ENST00000419558.7:c.*43-3693_*43-3676dup | ENSP00000416234.2:n.*43-3693_*43-3676dup | |
| ENST00000423897.7:c.2069-3693_2069-3676dup | ENSP00000412356.2:n.2069-3693_2069-3676dup | |
| ENST00000453292.7:c.781-3693_781-3676dup | ENSP00000392000.2:n.781-3693_781-3676dup | |
| ENST00000462499.6:c.-38-3693_-38-3676dup | ENSP00000499758.2:n.-38-3693_-38-3676dup | |
| ENST00000464624.7:c.2160-3693_2160-3676dup | ENSP00000499607.2:n.2160-3693_2160-3676dup | |
| ENST00000464788.6:c.-39+2706_-39+2723dup | ENSP00000499239.2:n.-39+2706_-39+2723dup | |
| ENST00000467227.6:c.-38-3693_-38-3676dup | ENSP00000499681.2:n.-38-3693_-38-3676dup | |
| ENST00000467321.6:c.-39+2873_-39+2890dup | ENSP00000499523.2:n.-39+2873_-39+2890dup | |
| ENST00000468895.6:c.139+54_139+71dup | ENSP00000499551.2:n.139+54_139+71dup | |
| ENST00000469431.6:c.-39+2513_-39+2530dup | ENSP00000499654.2:n.-39+2513_-39+2530dup | |
| ENST00000470512.6:c.-39+2566_-39+2583dup | ENSP00000499552.2:n.-39+2566_-39+2583dup | |
| ENST00000472183.6:c.-38-3693_-38-3676dup | ENSP00000499673.2:n.-38-3693_-38-3676dup | |
| ENST00000478585.6:c.-39+2566_-39+2583dup | ENSP00000499762.2:n.-39+2566_-39+2583dup | |
| ENST00000480232.6:c.-39+2370_-39+2387dup | ENSP00000499545.2:n.-39+2370_-39+2387dup | |
| ENST00000481039.6:c.-39+3011_-39+3028dup | ENSP00000499767.2:n.-39+3011_-39+3028dup | |
| ENST00000482112.6:c.-38-3693_-38-3676dup | ENSP00000499794.2:n.-38-3693_-38-3676dup | |
| ENST00000485673.6:c.-39+2370_-39+2387dup | ENSP00000499334.2:n.-39+2370_-39+2387dup | |
| ENST00000488546.6:c.-39+3101_-39+3118dup | ENSP00000499332.2:n.-39+3101_-39+3118dup | |
| ENST00000604005.6:c.-39+2587_-39+2604dup | ENSP00000474219.2:n.-39+2587_-39+2604dup | |
| ENST00000663479.2:c.-38-3693_-38-3676dup | ENSP00000499353.2:n.-38-3693_-38-3676dup | |
| ENST00000667293.2:c.-39+3015_-39+3032dup | ENSP00000499293.2:n.-39+3015_-39+3032dup | |
| ENST00000676826.2:c.2069-3693_2069-3676dup | ENSP00000504675.2:n.2069-3693_2069-3676dup | |
| ENST00000682803.1:c.-366+54_-366+71dup | ENSP00000507069.1:n.-366+54_-366+71dup | |
| ENST00000683015.1:c.909+1130_909+1147dup | ENSP00000506815.1:n.909+1130_909+1147dup | |
| ENST00000306090.12:c.44-3693_44-3676dup | ENSP00000304472.12:n.44-3693_44-3676dup | |
| ENST00000338783.7:c.139+54_139+71dup | ENSP00000345971.7:n.139+54_139+71dup | |
| ENST00000349036.8:c.2069-3693_2069-3676dup | ENSP00000265621.5:n.2069-3693_2069-3676dup | |
| ENST00000354359.12:c.139+54_139+71dup | ENSP00000346328.7:n.139+54_139+71dup | |
| ENST00000371085.8:c.139+54_139+71dup MANE Select | ENSP00000360126.3:n.139+54_139+71dup | |
| ENST00000371100.9:c.2069-3693_2069-3676dup MANE Plus Clinical | ENSP00000360141.3:n.2069-3693_2069-3676dup | |
| ENST00000419558.6:c.*43-3693_*43-3676dup | ENSP00000416234.2:n.*43-3693_*43-3676dup | |
| ENST00000423897.6:c.2069-3693_2069-3676dup | ENSP00000412356.2:n.2069-3693_2069-3676dup | |
| ENST00000453292.6:c.*43-3693_*43-3676dup | ENSP00000392000.2:n.*43-3693_*43-3676dup | |
| ENST00000461152.6:c.909+1130_909+1147dup | ENSP00000499274.1:n.909+1130_909+1147dup | |
| ENST00000481768.6:c.2227-3693_2227-3676dup | ENSP00000499644.2:n.2227-3693_2227-3676dup | |
| ENST00000490374.6:n.223-3693_223-3676dup | ||
| ENST00000657090.1:c.-38-3693_-38-3676dup | ENSP00000499380.1:n.-38-3693_-38-3676dup | |
| ENST00000663479.1:c.-38-3693_-38-3676dup | ENSP00000499353.1:n.-38-3693_-38-3676dup | |
| ENST00000667293.1:c.11-3693_11-3676dup | ENSP00000499293.1:n.11-3693_11-3676dup | |
| ENST00000676826.1:c.2069-3693_2069-3676dup | ENSP00000504675.1:n.2069-3693_2069-3676dup | |
| ENST00000265620.11:c.139+54_139+71dup | ENSP00000265620.7:n.139+54_139+71dup | |
| ENST00000306090.11:c.93+100_93+117dup | ENSP00000304472.11:n.93+100_93+117dup | |
| ENST00000313949.11:c.*43-3693_*43-3676dup | ENSP00000323571.7:n.*43-3693_*43-3676dup | |
| ENST00000338783.6:c.106+54_106+71dup | ENSP00000345971.6:n.106+54_106+71dup | |
| ENST00000349036.7:c.188-3693_188-3676dup | ENSP00000265621.4:n.188-3693_188-3676dup | |
| ENST00000354359.11:c.139+54_139+71dup | ENSP00000346328.7:n.139+54_139+71dup | |
| ENST00000371075.7:c.*43-3693_*43-3676dup MANE Plus Clinical | ENSP00000360115.3:n.*43-3693_*43-3676dup | |
| ENST00000371081.5:c.139+54_139+71dup | ENSP00000360122.1:n.139+54_139+71dup | |
| ENST00000371085.7:c.139+54_139+71dup | ENSP00000360126.3:n.139+54_139+71dup | |
| ENST00000371095.7:c.139+54_139+71dup | ENSP00000360136.3:n.139+54_139+71dup | |
| ENST00000371098.6:c.*43-3693_*43-3676dup | ENSP00000360139.2:n.*43-3693_*43-3676dup | |
| ENST00000371100.8:c.2069-3693_2069-3676dup | ENSP00000360141.3:n.2069-3693_2069-3676dup | |
| ENST00000371102.8:c.2069-3693_2069-3676dup | ENSP00000360143.4:n.2069-3693_2069-3676dup | |
| ENST00000419558.5:c.384-3693_384-3676dup | ||
| ENST00000423897.5:c.157-3693_157-3676dup | ||
| ENST00000450130.5:c.228-3693_228-3676dup | ||
| ENST00000453292.5:c.544-3693_544-3676dup | ENSP00000392000.1:n.544-3693_544-3676dup | |
| ENST00000461152.5:n.147+1130_147+1147dup | ||
| ENST00000462499.5:n.259-3693_259-3676dup | ||
| ENST00000464624.6:n.2355+54_2355+71dup | ||
| ENST00000464788.5:n.67+2706_67+2723dup | ||
| ENST00000464960.5:n.406+3101_406+3118dup | ||
| ENST00000467227.5:n.123-3693_123-3676dup | ||
| ENST00000467321.5:n.154+2873_154+2890dup | ||
| ENST00000468895.5:n.50+3011_50+3028dup | ||
| ENST00000469431.5:n.256+2513_256+2530dup | ||
| ENST00000470512.5:n.210+2566_210+2583dup | ||
| ENST00000472183.5:n.392-3693_392-3676dup | ||
| ENST00000477931.5:n.254+2566_254+2583dup | ||
| ENST00000478585.5:n.194+2566_194+2583dup | ||
| ENST00000480232.5:n.155+2370_155+2387dup | ||
| ENST00000480975.5:n.183+2566_183+2583dup | ||
| ENST00000481039.5:n.56+3015_56+3032dup | ||
| ENST00000481768.5:n.1324-3693_1324-3676dup | ||
| ENST00000482112.5:n.259-3693_259-3676dup | ||
| ENST00000484504.5:n.127+2566_127+2583dup | ||
| ENST00000485673.5:n.426+2370_426+2387dup | ||
| ENST00000488546.5:n.40+3101_40+3118dup | ||
| ENST00000490374.5:n.255-3693_255-3676dup | ||
| ENST00000491348.5:n.534-3693_534-3676dup | ||
| ENST00000493744.5:n.233-3693_233-3676dup | ||
| ENST00000604005.5:c.-39+2587_-39+2604dup | ENSP00000474219.1:n.-39+2587_-39+2604dup | |
| NM_000516.4:c.139+54_139+71dup | NP_000507.1:n.139+54_139+71dup | |
| NM_000516.5:c.139+54_139+71dup | NP_000507.1:n.139+54_139+71dup | |
| NM_001077488.2:c.139+54_139+71dup | NP_001070956.1:n.139+54_139+71dup | |
| NM_001077488.3:c.139+54_139+71dup | NP_001070956.1:n.139+54_139+71dup | |
| NM_001077489.2:c.139+54_139+71dup | NP_001070957.1:n.139+54_139+71dup | |
| NM_001077489.3:c.139+54_139+71dup | NP_001070957.1:n.139+54_139+71dup | |
| NM_001077490.1:c.*1-3693_*1-3676dup | NP_001070958.1:n.*1-3693_*1-3676dup | |
| NM_001077490.2:c.*1-3693_*1-3676dup | NP_001070958.1:n.*1-3693_*1-3676dup | |
| NM_001309840.1:c.-39+2566_-39+2583dup | NP_001296769.1:n.-39+2566_-39+2583dup | |
| NM_001309842.1:c.139+54_139+71dup | NP_001296771.1:n.139+54_139+71dup | |
| NM_001309861.1:c.-38-3693_-38-3676dup | NP_001296790.1:n.-38-3693_-38-3676dup | |
| NM_001309883.1:c.*159-3693_*159-3676dup | NP_001296812.1:n.*159-3693_*159-3676dup | |
| NM_016592.2:c.*43-3693_*43-3676dup | NP_057676.1:n.*43-3693_*43-3676dup | |
| NM_016592.3:c.*43-3693_*43-3676dup | NP_057676.1:n.*43-3693_*43-3676dup | |
| NM_080425.2:c.2069-3693_2069-3676dup | NP_536350.2:n.2069-3693_2069-3676dup | |
| NM_080425.3:c.2069-3693_2069-3676dup | NP_536350.2:n.2069-3693_2069-3676dup | |
| NM_080426.2:c.139+54_139+71dup | NP_536351.1:n.139+54_139+71dup | |
| NM_080426.3:c.139+54_139+71dup | NP_536351.1:n.139+54_139+71dup | |
| NR_003259.1:c.-4294967067+2566_-4294967067+2583dup | ||
| NR_132273.1:n.406+3101_406+3118dup | ||
| XM_017027812.2:c.2069-3693_2069-3676dup | XP_016883301.1:n.2069-3693_2069-3676dup | |
| XM_017027813.2:c.2069-3693_2069-3676dup | XP_016883302.1:n.2069-3693_2069-3676dup | |
| XM_017027814.2:c.2069-3693_2069-3676dup | XP_016883303.1:n.2069-3693_2069-3676dup | |
| XM_017027815.1:c.44-3693_44-3676dup | XP_016883304.1:n.44-3693_44-3676dup | |
| XM_017027816.1:c.-166+54_-166+71dup | XP_016883305.1:n.-166+54_-166+71dup | |
| XM_017027817.1:c.-39+2566_-39+2583dup | XP_016883306.1:n.-39+2566_-39+2583dup | |
| XM_017027819.1:c.-39+2587_-39+2604dup | XP_016883308.1:n.-39+2587_-39+2604dup | |
| XM_017027821.1:c.*43-3693_*43-3676dup | XP_016883310.1:n.*43-3693_*43-3676dup | |
| XM_017027822.1:c.*43-3693_*43-3676dup | XP_016883311.1:n.*43-3693_*43-3676dup | |
| XM_024451872.1:c.44-3693_44-3676dup | XP_024307640.1:n.44-3693_44-3676dup | |
| XM_024451875.1:c.-39+2587_-39+2604dup | XP_024307643.1:n.-39+2587_-39+2604dup | |
| XR_002958471.1:n.764+54_764+71dup | ||
| NM_000516.6:c.139+54_139+71dup | NP_000507.1:n.139+54_139+71dup | |
| NM_001077488.4:c.139+54_139+71dup | NP_001070956.1:n.139+54_139+71dup | |
| NM_001077489.4:c.139+54_139+71dup | NP_001070957.1:n.139+54_139+71dup | |
| NM_001309840.2:c.-39+2566_-39+2583dup | NP_001296769.1:n.-39+2566_-39+2583dup | |
| NM_001309842.2:c.139+54_139+71dup | NP_001296771.1:n.139+54_139+71dup | |
| NM_001309861.2:c.-38-3693_-38-3676dup | NP_001296790.1:n.-38-3693_-38-3676dup | |
| NM_016592.4:c.*43-3693_*43-3676dup | NP_057676.1:n.*43-3693_*43-3676dup | |
| NM_080426.4:c.139+54_139+71dup | NP_536351.1:n.139+54_139+71dup | |
| NM_000516.7:c.139+54_139+71dup MANE Select | NP_000507.1:n.139+54_139+71dup | |
| NM_001077488.5:c.139+54_139+71dup | NP_001070956.1:n.139+54_139+71dup | |
| NM_001077490.3:c.*1-3693_*1-3676dup | NP_001070958.1:n.*1-3693_*1-3676dup | |
| NM_016592.5:c.*43-3693_*43-3676dup MANE Plus Clinical | NP_057676.1:n.*43-3693_*43-3676dup | |
| NM_080425.4:c.2069-3693_2069-3676dup MANE Plus Clinical | NP_536350.2:n.2069-3693_2069-3676dup |