Linked Data
dbSNP Id:
rs2089348613
gnomAD v3:
20-58891657-G-GGCCCGAGTGAGGCC
gnomAD v4:
20-58891657-G-GGCCCGAGTGAGGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58891662_58891663insAGTGAGGCCGCCCG , CM000682.2:g.58891662_58891663insAGTGAGGCCGCCCG | GRCh38 |
| NC_000020.10:g.57466717_57466718insAGTGAGGCCGCCCG , CM000682.1:g.57466717_57466718insAGTGAGGCCGCCCG | GRCh37 |
| NC_000020.9:g.56900112_56900113insAGTGAGGCCGCCCG | NCBI36 |
| NG_016194.1:g.56923_56924insAGTGAGGCCGCCCG | |
| NG_016194.2:g.56923_56924insAGTGAGGCCGCCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | ENSP00000265621.6:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| ENST00000419558.7:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | ENSP00000416234.2:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| ENST00000423897.7:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | ENSP00000412356.2:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| ENST00000453292.7:c.781-3950_781-3949insAGTGAGGCCGCCCG | ENSP00000392000.2:n.781-3950_781-3949insAGTGAGGCCGCCCG | |
| ENST00000462499.6:c.-38-3950_-38-3949insAGTGAGGCCGCCCG | ENSP00000499758.2:n.-38-3950_-38-3949insAGTGAGGCCGCCCG | |
| ENST00000464624.7:c.2160-3950_2160-3949insAGTGAGGCCGCCCG | ENSP00000499607.2:n.2160-3950_2160-3949insAGTGAGGCCGCCCG | |
| ENST00000464788.6:c.-39+2449_-39+2450insAGTGAGGCCGCCCG | ENSP00000499239.2:n.-39+2449_-39+2450insAGTGAGGCCGCCCG | |
| ENST00000467227.6:c.-38-3950_-38-3949insAGTGAGGCCGCCCG | ENSP00000499681.2:n.-38-3950_-38-3949insAGTGAGGCCGCCCG | |
| ENST00000467321.6:c.-39+2616_-39+2617insAGTGAGGCCGCCCG | ENSP00000499523.2:n.-39+2616_-39+2617insAGTGAGGCCGCCCG | |
| ENST00000469431.6:c.-39+2256_-39+2257insAGTGAGGCCGCCCG | ENSP00000499654.2:n.-39+2256_-39+2257insAGTGAGGCCGCCCG | |
| ENST00000470512.6:c.-39+2309_-39+2310insAGTGAGGCCGCCCG | ENSP00000499552.2:n.-39+2309_-39+2310insAGTGAGGCCGCCCG | |
| ENST00000472183.6:c.-38-3950_-38-3949insAGTGAGGCCGCCCG | ENSP00000499673.2:n.-38-3950_-38-3949insAGTGAGGCCGCCCG | |
| ENST00000478585.6:c.-39+2309_-39+2310insAGTGAGGCCGCCCG | ENSP00000499762.2:n.-39+2309_-39+2310insAGTGAGGCCGCCCG | |
| ENST00000480232.6:c.-39+2113_-39+2114insAGTGAGGCCGCCCG | ENSP00000499545.2:n.-39+2113_-39+2114insAGTGAGGCCGCCCG | |
| ENST00000481039.6:c.-39+2754_-39+2755insAGTGAGGCCGCCCG | ENSP00000499767.2:n.-39+2754_-39+2755insAGTGAGGCCGCCCG | |
| ENST00000482112.6:c.-38-3950_-38-3949insAGTGAGGCCGCCCG | ENSP00000499794.2:n.-38-3950_-38-3949insAGTGAGGCCGCCCG | |
| ENST00000485673.6:c.-39+2113_-39+2114insAGTGAGGCCGCCCG | ENSP00000499334.2:n.-39+2113_-39+2114insAGTGAGGCCGCCCG | |
| ENST00000488546.6:c.-39+2844_-39+2845insAGTGAGGCCGCCCG | ENSP00000499332.2:n.-39+2844_-39+2845insAGTGAGGCCGCCCG | |
| ENST00000604005.6:c.-39+2330_-39+2331insAGTGAGGCCGCCCG | ENSP00000474219.2:n.-39+2330_-39+2331insAGTGAGGCCGCCCG | |
| ENST00000663479.2:c.-38-3950_-38-3949insAGTGAGGCCGCCCG | ENSP00000499353.2:n.-38-3950_-38-3949insAGTGAGGCCGCCCG | |
| ENST00000667293.2:c.-39+2758_-39+2759insAGTGAGGCCGCCCG | ENSP00000499293.2:n.-39+2758_-39+2759insAGTGAGGCCGCCCG | |
| ENST00000676826.2:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | ENSP00000504675.2:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| ENST00000683015.1:c.909+873_909+874insAGTGAGGCCGCCCG | ENSP00000506815.1:n.909+873_909+874insAGTGAGGCCGCCCG | |
| ENST00000306090.12:c.44-3950_44-3949insAGTGAGGCCGCCCG | ENSP00000304472.12:n.44-3950_44-3949insAGTGAGGCCGCCCG | |
| ENST00000349036.8:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | ENSP00000265621.5:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| ENST00000354359.12:c.-65_-64insAGTGAGGCCGCCCG | ENSP00000346328.7:n.-65_-64insAGTGAGGCCGCCCG | |
| ENST00000371085.8:c.-65_-64insAGTGAGGCCGCCCG MANE Select | ENSP00000360126.3:n.-65_-64insAGTGAGGCCGCCCG | |
| ENST00000371100.9:c.2069-3950_2069-3949insAGTGAGGCCGCCCG MANE Plus Clinical | ENSP00000360141.3:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| ENST00000419558.6:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | ENSP00000416234.2:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| ENST00000423897.6:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | ENSP00000412356.2:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| ENST00000453292.6:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | ENSP00000392000.2:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| ENST00000461152.6:c.909+873_909+874insAGTGAGGCCGCCCG | ENSP00000499274.1:n.909+873_909+874insAGTGAGGCCGCCCG | |
| ENST00000481768.6:c.2227-3950_2227-3949insAGTGAGGCCGCCCG | ENSP00000499644.2:n.2227-3950_2227-3949insAGTGAGGCCGCCCG | |
| ENST00000490374.6:n.223-3950_223-3949insAGTGAGGCCGCCCG | ||
| ENST00000657090.1:c.-38-3950_-38-3949insAGTGAGGCCGCCCG | ENSP00000499380.1:n.-38-3950_-38-3949insAGTGAGGCCGCCCG | |
| ENST00000663479.1:c.-38-3950_-38-3949insAGTGAGGCCGCCCG | ENSP00000499353.1:n.-38-3950_-38-3949insAGTGAGGCCGCCCG | |
| ENST00000667293.1:c.11-3950_11-3949insAGTGAGGCCGCCCG | ENSP00000499293.1:n.11-3950_11-3949insAGTGAGGCCGCCCG | |
| ENST00000676826.1:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | ENSP00000504675.1:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| ENST00000265620.11:c.-65_-64insAGTGAGGCCGCCCG | ENSP00000265620.7:n.-65_-64insAGTGAGGCCGCCCG | |
| ENST00000313949.11:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | ENSP00000323571.7:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| ENST00000349036.7:c.188-3950_188-3949insAGTGAGGCCGCCCG | ENSP00000265621.4:n.188-3950_188-3949insAGTGAGGCCGCCCG | |
| ENST00000354359.11:c.-65_-64insAGTGAGGCCGCCCG | ENSP00000346328.7:n.-65_-64insAGTGAGGCCGCCCG | |
| ENST00000371075.7:c.*43-3950_*43-3949insAGTGAGGCCGCCCG MANE Plus Clinical | ENSP00000360115.3:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| ENST00000371085.7:c.-65_-64insAGTGAGGCCGCCCG | ENSP00000360126.3:n.-65_-64insAGTGAGGCCGCCCG | |
| ENST00000371095.7:c.-65_-64insAGTGAGGCCGCCCG | ENSP00000360136.3:n.-65_-64insAGTGAGGCCGCCCG | |
| ENST00000371098.6:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | ENSP00000360139.2:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| ENST00000371100.8:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | ENSP00000360141.3:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| ENST00000371102.8:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | ENSP00000360143.4:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| ENST00000419558.5:c.384-3950_384-3949insAGTGAGGCCGCCCG | ||
| ENST00000423897.5:c.157-3950_157-3949insAGTGAGGCCGCCCG | ||
| ENST00000450130.5:c.228-3950_228-3949insAGTGAGGCCGCCCG | ||
| ENST00000453292.5:c.544-3950_544-3949insAGTGAGGCCGCCCG | ENSP00000392000.1:n.544-3950_544-3949insAGTGAGGCCGCCCG | |
| ENST00000461152.5:n.147+873_147+874insAGTGAGGCCGCCCG | ||
| ENST00000462499.5:n.259-3950_259-3949insAGTGAGGCCGCCCG | ||
| ENST00000464624.6:n.2152_2153insAGTGAGGCCGCCCG | ||
| ENST00000464788.5:n.67+2449_67+2450insAGTGAGGCCGCCCG | ||
| ENST00000464960.5:n.406+2844_406+2845insAGTGAGGCCGCCCG | ||
| ENST00000467227.5:n.123-3950_123-3949insAGTGAGGCCGCCCG | ||
| ENST00000467321.5:n.154+2616_154+2617insAGTGAGGCCGCCCG | ||
| ENST00000468895.5:n.50+2754_50+2755insAGTGAGGCCGCCCG | ||
| ENST00000469431.5:n.256+2256_256+2257insAGTGAGGCCGCCCG | ||
| ENST00000470512.5:n.210+2309_210+2310insAGTGAGGCCGCCCG | ||
| ENST00000472183.5:n.392-3950_392-3949insAGTGAGGCCGCCCG | ||
| ENST00000477931.5:n.254+2309_254+2310insAGTGAGGCCGCCCG | ||
| ENST00000478585.5:n.194+2309_194+2310insAGTGAGGCCGCCCG | ||
| ENST00000480232.5:n.155+2113_155+2114insAGTGAGGCCGCCCG | ||
| ENST00000480975.5:n.183+2309_183+2310insAGTGAGGCCGCCCG | ||
| ENST00000481039.5:n.56+2758_56+2759insAGTGAGGCCGCCCG | ||
| ENST00000481768.5:n.1324-3950_1324-3949insAGTGAGGCCGCCCG | ||
| ENST00000482112.5:n.259-3950_259-3949insAGTGAGGCCGCCCG | ||
| ENST00000484504.5:n.127+2309_127+2310insAGTGAGGCCGCCCG | ||
| ENST00000485673.5:n.426+2113_426+2114insAGTGAGGCCGCCCG | ||
| ENST00000488546.5:n.40+2844_40+2845insAGTGAGGCCGCCCG | ||
| ENST00000490374.5:n.255-3950_255-3949insAGTGAGGCCGCCCG | ||
| ENST00000491348.5:n.534-3950_534-3949insAGTGAGGCCGCCCG | ||
| ENST00000493744.5:n.233-3950_233-3949insAGTGAGGCCGCCCG | ||
| ENST00000604005.5:c.-39+2330_-39+2331insAGTGAGGCCGCCCG | ENSP00000474219.1:n.-39+2330_-39+2331insAGTGAGGCCGCCCG | |
| NM_000516.4:c.-65_-64insAGTGAGGCCGCCCG | NP_000507.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_000516.5:c.-65_-64insAGTGAGGCCGCCCG | NP_000507.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001077488.2:c.-65_-64insAGTGAGGCCGCCCG | NP_001070956.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001077488.3:c.-65_-64insAGTGAGGCCGCCCG | NP_001070956.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001077489.2:c.-65_-64insAGTGAGGCCGCCCG | NP_001070957.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001077489.3:c.-65_-64insAGTGAGGCCGCCCG | NP_001070957.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001077490.1:c.*1-3950_*1-3949insAGTGAGGCCGCCCG | NP_001070958.1:n.*1-3950_*1-3949insAGTGAGGCCGCCCG | |
| NM_001077490.2:c.*1-3950_*1-3949insAGTGAGGCCGCCCG | NP_001070958.1:n.*1-3950_*1-3949insAGTGAGGCCGCCCG | |
| NM_001309840.1:c.-39+2309_-39+2310insAGTGAGGCCGCCCG | NP_001296769.1:n.-39+2309_-39+2310insAGTGAGGCCGCCCG | |
| NM_001309842.1:c.-65_-64insAGTGAGGCCGCCCG | NP_001296771.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001309861.1:c.-38-3950_-38-3949insAGTGAGGCCGCCCG | NP_001296790.1:n.-38-3950_-38-3949insAGTGAGGCCGCCCG | |
| NM_001309883.1:c.*159-3950_*159-3949insAGTGAGGCCGCCCG | NP_001296812.1:n.*159-3950_*159-3949insAGTGAGGCCGCCCG | |
| NM_016592.2:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | NP_057676.1:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| NM_016592.3:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | NP_057676.1:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| NM_080425.2:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | NP_536350.2:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| NM_080425.3:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | NP_536350.2:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| NM_080426.2:c.-65_-64insAGTGAGGCCGCCCG | NP_536351.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_080426.3:c.-65_-64insAGTGAGGCCGCCCG | NP_536351.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NR_003259.1:c.-4294967067+2309_-4294967067+2310insAGTGAGGCCGCCCG | ||
| NR_132273.1:n.406+2844_406+2845insAGTGAGGCCGCCCG | ||
| XM_017027812.2:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | XP_016883301.1:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| XM_017027813.2:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | XP_016883302.1:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| XM_017027814.2:c.2069-3950_2069-3949insAGTGAGGCCGCCCG | XP_016883303.1:n.2069-3950_2069-3949insAGTGAGGCCGCCCG | |
| XM_017027815.1:c.44-3950_44-3949insAGTGAGGCCGCCCG | XP_016883304.1:n.44-3950_44-3949insAGTGAGGCCGCCCG | |
| XM_017027816.1:c.-369_-368insAGTGAGGCCGCCCG | XP_016883305.1:n.-369_-368insAGTGAGGCCGCCCG | |
| XM_017027817.1:c.-39+2309_-39+2310insAGTGAGGCCGCCCG | XP_016883306.1:n.-39+2309_-39+2310insAGTGAGGCCGCCCG | |
| XM_017027819.1:c.-39+2330_-39+2331insAGTGAGGCCGCCCG | XP_016883308.1:n.-39+2330_-39+2331insAGTGAGGCCGCCCG | |
| XM_017027821.1:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | XP_016883310.1:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| XM_017027822.1:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | XP_016883311.1:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| XM_024451872.1:c.44-3950_44-3949insAGTGAGGCCGCCCG | XP_024307640.1:n.44-3950_44-3949insAGTGAGGCCGCCCG | |
| XM_024451875.1:c.-39+2330_-39+2331insAGTGAGGCCGCCCG | XP_024307643.1:n.-39+2330_-39+2331insAGTGAGGCCGCCCG | |
| XR_002958471.1:n.561_562insAGTGAGGCCGCCCG | ||
| NM_000516.6:c.-65_-64insAGTGAGGCCGCCCG | NP_000507.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001077488.4:c.-65_-64insAGTGAGGCCGCCCG | NP_001070956.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001077489.4:c.-65_-64insAGTGAGGCCGCCCG | NP_001070957.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001309840.2:c.-39+2309_-39+2310insAGTGAGGCCGCCCG | NP_001296769.1:n.-39+2309_-39+2310insAGTGAGGCCGCCCG | |
| NM_001309842.2:c.-65_-64insAGTGAGGCCGCCCG | NP_001296771.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001309861.2:c.-38-3950_-38-3949insAGTGAGGCCGCCCG | NP_001296790.1:n.-38-3950_-38-3949insAGTGAGGCCGCCCG | |
| NM_016592.4:c.*43-3950_*43-3949insAGTGAGGCCGCCCG | NP_057676.1:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| NM_080426.4:c.-65_-64insAGTGAGGCCGCCCG | NP_536351.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_000516.7:c.-65_-64insAGTGAGGCCGCCCG MANE Select | NP_000507.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001077488.5:c.-65_-64insAGTGAGGCCGCCCG | NP_001070956.1:n.-65_-64insAGTGAGGCCGCCCG | |
| NM_001077490.3:c.*1-3950_*1-3949insAGTGAGGCCGCCCG | NP_001070958.1:n.*1-3950_*1-3949insAGTGAGGCCGCCCG | |
| NM_016592.5:c.*43-3950_*43-3949insAGTGAGGCCGCCCG MANE Plus Clinical | NP_057676.1:n.*43-3950_*43-3949insAGTGAGGCCGCCCG | |
| NM_080425.4:c.2069-3950_2069-3949insAGTGAGGCCGCCCG MANE Plus Clinical | NP_536350.2:n.2069-3950_2069-3949insAGTGAGGCCGCCCG |