Linked Data
dbSNP Id:
rs1378732770
gnomAD v2:
20-57466619-G-GCGGCCCGCGGCCCGCAGTC
gnomAD v3:
20-58891564-G-GCGGCCCGCGGCCCGCAGTC
gnomAD v4:
20-58891564-G-GCGGCCCGCGGCCCGCAGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58891567_58891585dup , CM000682.2:g.58891567_58891585dup | GRCh38 |
| NC_000020.10:g.57466622_57466640dup , CM000682.1:g.57466622_57466640dup | GRCh37 |
| NC_000020.9:g.56900017_56900035dup | NCBI36 |
| NG_016194.1:g.56828_56846dup | |
| NG_016194.2:g.56828_56846dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-4045_2069-4027dup | ENSP00000265621.6:n.2069-4045_2069-4027dup | |
| ENST00000419558.7:c.*43-4045_*43-4027dup | ENSP00000416234.2:n.*43-4045_*43-4027dup | |
| ENST00000423897.7:c.2069-4045_2069-4027dup | ENSP00000412356.2:n.2069-4045_2069-4027dup | |
| ENST00000453292.7:c.781-4045_781-4027dup | ENSP00000392000.2:n.781-4045_781-4027dup | |
| ENST00000462499.6:c.-38-4045_-38-4027dup | ENSP00000499758.2:n.-38-4045_-38-4027dup | |
| ENST00000464624.7:c.2160-4045_2160-4027dup | ENSP00000499607.2:n.2160-4045_2160-4027dup | |
| ENST00000464788.6:c.-39+2354_-39+2372dup | ENSP00000499239.2:n.-39+2354_-39+2372dup | |
| ENST00000467227.6:c.-38-4045_-38-4027dup | ENSP00000499681.2:n.-38-4045_-38-4027dup | |
| ENST00000467321.6:c.-39+2521_-39+2539dup | ENSP00000499523.2:n.-39+2521_-39+2539dup | |
| ENST00000469431.6:c.-39+2161_-39+2179dup | ENSP00000499654.2:n.-39+2161_-39+2179dup | |
| ENST00000470512.6:c.-39+2214_-39+2232dup | ENSP00000499552.2:n.-39+2214_-39+2232dup | |
| ENST00000472183.6:c.-38-4045_-38-4027dup | ENSP00000499673.2:n.-38-4045_-38-4027dup | |
| ENST00000478585.6:c.-39+2214_-39+2232dup | ENSP00000499762.2:n.-39+2214_-39+2232dup | |
| ENST00000480232.6:c.-39+2018_-39+2036dup | ENSP00000499545.2:n.-39+2018_-39+2036dup | |
| ENST00000481039.6:c.-39+2659_-39+2677dup | ENSP00000499767.2:n.-39+2659_-39+2677dup | |
| ENST00000482112.6:c.-38-4045_-38-4027dup | ENSP00000499794.2:n.-38-4045_-38-4027dup | |
| ENST00000485673.6:c.-39+2018_-39+2036dup | ENSP00000499334.2:n.-39+2018_-39+2036dup | |
| ENST00000488546.6:c.-39+2749_-39+2767dup | ENSP00000499332.2:n.-39+2749_-39+2767dup | |
| ENST00000604005.6:c.-39+2235_-39+2253dup | ENSP00000474219.2:n.-39+2235_-39+2253dup | |
| ENST00000663479.2:c.-38-4045_-38-4027dup | ENSP00000499353.2:n.-38-4045_-38-4027dup | |
| ENST00000667293.2:c.-39+2663_-39+2681dup | ENSP00000499293.2:n.-39+2663_-39+2681dup | |
| ENST00000676826.2:c.2069-4045_2069-4027dup | ENSP00000504675.2:n.2069-4045_2069-4027dup | |
| ENST00000683015.1:c.909+778_909+796dup | ENSP00000506815.1:n.909+778_909+796dup | |
| ENST00000306090.12:c.44-4045_44-4027dup | ENSP00000304472.12:n.44-4045_44-4027dup | |
| ENST00000349036.8:c.2069-4045_2069-4027dup | ENSP00000265621.5:n.2069-4045_2069-4027dup | |
| ENST00000354359.12:c.-160_-142dup | ENSP00000346328.7:n.-160_-142dup | |
| ENST00000371085.8:c.-160_-142dup MANE Select | ENSP00000360126.3:n.-160_-142dup | |
| ENST00000371100.9:c.2069-4045_2069-4027dup MANE Plus Clinical | ENSP00000360141.3:n.2069-4045_2069-4027dup | |
| ENST00000419558.6:c.*43-4045_*43-4027dup | ENSP00000416234.2:n.*43-4045_*43-4027dup | |
| ENST00000423897.6:c.2069-4045_2069-4027dup | ENSP00000412356.2:n.2069-4045_2069-4027dup | |
| ENST00000453292.6:c.*43-4045_*43-4027dup | ENSP00000392000.2:n.*43-4045_*43-4027dup | |
| ENST00000461152.6:c.909+778_909+796dup | ENSP00000499274.1:n.909+778_909+796dup | |
| ENST00000481768.6:c.2227-4045_2227-4027dup | ENSP00000499644.2:n.2227-4045_2227-4027dup | |
| ENST00000490374.6:n.223-4045_223-4027dup | ||
| ENST00000657090.1:c.-38-4045_-38-4027dup | ENSP00000499380.1:n.-38-4045_-38-4027dup | |
| ENST00000663479.1:c.-38-4045_-38-4027dup | ENSP00000499353.1:n.-38-4045_-38-4027dup | |
| ENST00000667293.1:c.11-4045_11-4027dup | ENSP00000499293.1:n.11-4045_11-4027dup | |
| ENST00000676826.1:c.2069-4045_2069-4027dup | ENSP00000504675.1:n.2069-4045_2069-4027dup | |
| ENST00000265620.11:c.-160_-142dup | ENSP00000265620.7:n.-160_-142dup | |
| ENST00000313949.11:c.*43-4045_*43-4027dup | ENSP00000323571.7:n.*43-4045_*43-4027dup | |
| ENST00000349036.7:c.188-4045_188-4027dup | ENSP00000265621.4:n.188-4045_188-4027dup | |
| ENST00000354359.11:c.-160_-142dup | ENSP00000346328.7:n.-160_-142dup | |
| ENST00000371075.7:c.*43-4045_*43-4027dup MANE Plus Clinical | ENSP00000360115.3:n.*43-4045_*43-4027dup | |
| ENST00000371085.7:c.-160_-142dup | ENSP00000360126.3:n.-160_-142dup | |
| ENST00000371095.7:c.-160_-142dup | ENSP00000360136.3:n.-160_-142dup | |
| ENST00000371098.6:c.*43-4045_*43-4027dup | ENSP00000360139.2:n.*43-4045_*43-4027dup | |
| ENST00000371100.8:c.2069-4045_2069-4027dup | ENSP00000360141.3:n.2069-4045_2069-4027dup | |
| ENST00000371102.8:c.2069-4045_2069-4027dup | ENSP00000360143.4:n.2069-4045_2069-4027dup | |
| ENST00000419558.5:c.384-4045_384-4027dup | ||
| ENST00000423897.5:c.157-4045_157-4027dup | ||
| ENST00000450130.5:c.228-4045_228-4027dup | ||
| ENST00000453292.5:c.544-4045_544-4027dup | ENSP00000392000.1:n.544-4045_544-4027dup | |
| ENST00000461152.5:n.147+778_147+796dup | ||
| ENST00000462499.5:n.259-4045_259-4027dup | ||
| ENST00000464624.6:n.2072-15_2075dup | ||
| ENST00000464788.5:n.67+2354_67+2372dup | ||
| ENST00000464960.5:n.406+2749_406+2767dup | ||
| ENST00000467227.5:n.123-4045_123-4027dup | ||
| ENST00000467321.5:n.154+2521_154+2539dup | ||
| ENST00000468895.5:n.50+2659_50+2677dup | ||
| ENST00000469431.5:n.256+2161_256+2179dup | ||
| ENST00000470512.5:n.210+2214_210+2232dup | ||
| ENST00000472183.5:n.392-4045_392-4027dup | ||
| ENST00000477931.5:n.254+2214_254+2232dup | ||
| ENST00000478585.5:n.194+2214_194+2232dup | ||
| ENST00000480232.5:n.155+2018_155+2036dup | ||
| ENST00000480975.5:n.183+2214_183+2232dup | ||
| ENST00000481039.5:n.56+2663_56+2681dup | ||
| ENST00000481768.5:n.1324-4045_1324-4027dup | ||
| ENST00000482112.5:n.259-4045_259-4027dup | ||
| ENST00000484504.5:n.127+2214_127+2232dup | ||
| ENST00000485673.5:n.426+2018_426+2036dup | ||
| ENST00000488546.5:n.40+2749_40+2767dup | ||
| ENST00000490374.5:n.255-4045_255-4027dup | ||
| ENST00000491348.5:n.534-4045_534-4027dup | ||
| ENST00000493744.5:n.233-4045_233-4027dup | ||
| ENST00000604005.5:c.-39+2235_-39+2253dup | ENSP00000474219.1:n.-39+2235_-39+2253dup | |
| NM_000516.4:c.-160_-142dup | NP_000507.1:n.-160_-142dup | |
| NM_000516.5:c.-160_-142dup | NP_000507.1:n.-160_-142dup | |
| NM_001077488.2:c.-160_-142dup | NP_001070956.1:n.-160_-142dup | |
| NM_001077488.3:c.-160_-142dup | NP_001070956.1:n.-160_-142dup | |
| NM_001077489.2:c.-160_-142dup | NP_001070957.1:n.-160_-142dup | |
| NM_001077489.3:c.-160_-142dup | NP_001070957.1:n.-160_-142dup | |
| NM_001077490.1:c.*1-4045_*1-4027dup | NP_001070958.1:n.*1-4045_*1-4027dup | |
| NM_001077490.2:c.*1-4045_*1-4027dup | NP_001070958.1:n.*1-4045_*1-4027dup | |
| NM_001309840.1:c.-39+2214_-39+2232dup | NP_001296769.1:n.-39+2214_-39+2232dup | |
| NM_001309842.1:c.-160_-142dup | NP_001296771.1:n.-160_-142dup | |
| NM_001309861.1:c.-38-4045_-38-4027dup | NP_001296790.1:n.-38-4045_-38-4027dup | |
| NM_001309883.1:c.*159-4045_*159-4027dup | NP_001296812.1:n.*159-4045_*159-4027dup | |
| NM_016592.2:c.*43-4045_*43-4027dup | NP_057676.1:n.*43-4045_*43-4027dup | |
| NM_016592.3:c.*43-4045_*43-4027dup | NP_057676.1:n.*43-4045_*43-4027dup | |
| NM_080425.2:c.2069-4045_2069-4027dup | NP_536350.2:n.2069-4045_2069-4027dup | |
| NM_080425.3:c.2069-4045_2069-4027dup | NP_536350.2:n.2069-4045_2069-4027dup | |
| NM_080426.2:c.-160_-142dup | NP_536351.1:n.-160_-142dup | |
| NM_080426.3:c.-160_-142dup | NP_536351.1:n.-160_-142dup | |
| NR_003259.1:c.-4294967067+2214_-4294967067+2232dup | ||
| NR_132273.1:n.406+2749_406+2767dup | ||
| XM_017027812.2:c.2069-4045_2069-4027dup | XP_016883301.1:n.2069-4045_2069-4027dup | |
| XM_017027813.2:c.2069-4045_2069-4027dup | XP_016883302.1:n.2069-4045_2069-4027dup | |
| XM_017027814.2:c.2069-4045_2069-4027dup | XP_016883303.1:n.2069-4045_2069-4027dup | |
| XM_017027815.1:c.44-4045_44-4027dup | XP_016883304.1:n.44-4045_44-4027dup | |
| XM_017027816.1:c.-464_-446dup | XP_016883305.1:n.-464_-446dup | |
| XM_017027817.1:c.-39+2214_-39+2232dup | XP_016883306.1:n.-39+2214_-39+2232dup | |
| XM_017027819.1:c.-39+2235_-39+2253dup | XP_016883308.1:n.-39+2235_-39+2253dup | |
| XM_017027821.1:c.*43-4045_*43-4027dup | XP_016883310.1:n.*43-4045_*43-4027dup | |
| XM_017027822.1:c.*43-4045_*43-4027dup | XP_016883311.1:n.*43-4045_*43-4027dup | |
| XM_024451872.1:c.44-4045_44-4027dup | XP_024307640.1:n.44-4045_44-4027dup | |
| XM_024451875.1:c.-39+2235_-39+2253dup | XP_024307643.1:n.-39+2235_-39+2253dup | |
| XR_002958471.1:n.466_484dup | ||
| NM_000516.6:c.-160_-142dup | NP_000507.1:n.-160_-142dup | |
| NM_001077488.4:c.-160_-142dup | NP_001070956.1:n.-160_-142dup | |
| NM_001077489.4:c.-160_-142dup | NP_001070957.1:n.-160_-142dup | |
| NM_001309840.2:c.-39+2214_-39+2232dup | NP_001296769.1:n.-39+2214_-39+2232dup | |
| NM_001309842.2:c.-160_-142dup | NP_001296771.1:n.-160_-142dup | |
| NM_001309861.2:c.-38-4045_-38-4027dup | NP_001296790.1:n.-38-4045_-38-4027dup | |
| NM_016592.4:c.*43-4045_*43-4027dup | NP_057676.1:n.*43-4045_*43-4027dup | |
| NM_080426.4:c.-160_-142dup | NP_536351.1:n.-160_-142dup | |
| NM_000516.7:c.-160_-142dup MANE Select | NP_000507.1:n.-160_-142dup | |
| NM_001077488.5:c.-160_-142dup | NP_001070956.1:n.-160_-142dup | |
| NM_001077490.3:c.*1-4045_*1-4027dup | NP_001070958.1:n.*1-4045_*1-4027dup | |
| NM_016592.5:c.*43-4045_*43-4027dup MANE Plus Clinical | NP_057676.1:n.*43-4045_*43-4027dup | |
| NM_080425.4:c.2069-4045_2069-4027dup MANE Plus Clinical | NP_536350.2:n.2069-4045_2069-4027dup |