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.
Linked Data
MyVariant Identifiers:
chr20:g.43252971_43252973del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624330_44624332del , CM000682.2:g.44624330_44624332del | GRCh38 |
| NC_000020.10:g.43252971_43252973del , CM000682.1:g.43252971_43252973del | GRCh37 |
| NC_000020.9:g.42686385_42686387del | NCBI36 |
| NG_007385.1:g.32404_32406del , LRG_16:g.32404_32406del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.570-3_570-1del | ||
| ENST00000536076.2:c.326-3_326-1del | ENSP00000512234.1:n.326-3_326-1del | |
| ENST00000536532.6:c.479-3_479-1del | ENSP00000440946.1:n.479-3_479-1del | |
| ENST00000537820.2:c.479-3_479-1del | ENSP00000441818.1:n.479-3_479-1del | |
| ENST00000539235.6:c.219-1254_219-1252del | ENSP00000446464.1:n.219-1254_219-1252del | |
| ENST00000695889.1:c.219-1402_219-1400del | ENSP00000512240.1:n.219-1402_219-1400del | |
| ENST00000695890.1:n.2282-3_2282-1del | ||
| ENST00000695891.1:c.219-1402_219-1400del | ENSP00000512241.1:n.219-1402_219-1400del | |
| ENST00000695927.1:c.557-3_557-1del | ENSP00000512270.1:n.557-3_557-1del | |
| ENST00000695949.1:c.476-3_476-1del | ENSP00000512281.1:n.476-3_476-1del | |
| ENST00000695957.1:c.363-3_363-1del | ENSP00000512286.1:n.363-3_363-1del | |
| ENST00000695991.1:c.217-1402_217-1400del | ENSP00000512314.1:n.217-1402_217-1400del | |
| ENST00000695992.1:c.479-3_479-1del | ENSP00000512315.1:n.479-3_479-1del | |
| ENST00000695993.1:c.479-3_479-1del | ENSP00000512316.1:n.479-3_479-1del | |
| ENST00000695994.1:c.479-3_479-1del | ENSP00000512317.1:n.479-3_479-1del | |
| ENST00000695995.1:c.217-1254_217-1252del | ENSP00000512318.1:n.217-1254_217-1252del | |
| ENST00000695996.1:n.550-3_550-1del | ||
| ENST00000695997.1:n.434-3_434-1del | ||
| ENST00000696003.1:n.571-3_571-1del | ||
| ENST00000696004.1:n.571-3_571-1del | ||
| ENST00000696006.1:c.479-3_479-1del | ENSP00000512325.1:n.479-3_479-1del | |
| ENST00000696007.1:c.330-3_330-1del | ENSP00000512326.1:n.330-3_330-1del | |
| ENST00000696008.1:n.1631_1633del | ||
| ENST00000696009.1:n.1826_1828del | ||
| ENST00000696017.1:c.476-3_476-1del | ENSP00000512333.1:n.476-3_476-1del | |
| ENST00000696034.1:c.479-3_479-1del | ENSP00000512343.1:n.479-3_479-1del | |
| ENST00000696035.1:n.589-3_589-1del | ||
| ENST00000696036.1:n.1169-3_1169-1del | ||
| ENST00000696037.1:n.2156-3_2156-1del | ||
| ENST00000696038.1:c.*225-3_*225-1del | ENSP00000512344.1:n.*225-3_*225-1del | |
| ENST00000696039.1:n.767-3_767-1del | ||
| ENST00000696058.1:c.479-3_479-1del | ENSP00000512361.1:n.479-3_479-1del | |
| ENST00000696059.1:c.*424-3_*424-1del | ENSP00000512362.1:n.*424-3_*424-1del | |
| ENST00000696060.1:c.479-3_479-1del | ENSP00000512363.1:n.479-3_479-1del | |
| ENST00000696061.1:c.476-3_476-1del | ENSP00000512364.1:n.476-3_476-1del | |
| ENST00000696062.1:c.542-3_542-1del | ENSP00000512365.1:n.542-3_542-1del | |
| ENST00000696063.1:c.554-3_554-1del | ENSP00000512366.1:n.554-3_554-1del | |
| ENST00000696064.1:c.326-3_326-1del | ENSP00000512367.1:n.326-3_326-1del | |
| ENST00000696065.1:c.66-1402_66-1400del | ENSP00000512368.1:n.66-1402_66-1400del | |
| ENST00000696074.1:n.92_94del | ||
| ENST00000696075.1:c.*449-3_*449-1del | ENSP00000512374.1:n.*449-3_*449-1del | |
| ENST00000696076.1:c.479-3_479-1del | ENSP00000512375.1:n.479-3_479-1del | |
| ENST00000696077.1:c.476-3_476-1del | ENSP00000512376.1:n.476-3_476-1del | |
| ENST00000696078.1:c.479-3_479-1del | ENSP00000512377.1:n.479-3_479-1del | |
| ENST00000696079.1:c.479-3_479-1del | ENSP00000512378.1:n.479-3_479-1del | |
| ENST00000696080.1:c.479-3_479-1del | ENSP00000512379.1:n.479-3_479-1del | |
| ENST00000696081.1:n.595_597del | ||
| ENST00000696082.1:c.557-3_557-1del | ENSP00000512380.1:n.557-3_557-1del | |
| ENST00000696083.1:n.1357_1359del | ||
| ENST00000696084.1:n.580-3_580-1del | ||
| ENST00000696104.1:c.363-1402_363-1400del | ENSP00000512399.1:n.363-1402_363-1400del | |
| ENST00000696105.1:c.*20-3_*20-1del | ENSP00000512400.1:n.*20-3_*20-1del | |
| ENST00000372874.9:c.479-3_479-1del MANE Select | ENSP00000361965.4:n.479-3_479-1del | |
| ENST00000372874.8:c.479-3_479-1del | ENSP00000361965.4:n.479-3_479-1del | |
| ENST00000464097.5:n.153-3_153-1del | ||
| ENST00000492931.5:n.563-3_563-1del | ||
| ENST00000536532.5:c.479-3_479-1del | ENSP00000440946.1:n.479-3_479-1del | |
| ENST00000537820.1:c.479-3_479-1del | ENSP00000441818.1:n.479-3_479-1del | |
| ENST00000539235.5:c.219-1254_219-1252del | ENSP00000446464.1:n.219-1254_219-1252del | |
| NM_000022.2:c.479-3_479-1del , LRG_16t1:c.479-3_479-1del | NP_000013.2:n.479-3_479-1del | |
| XM_005260236.2:c.479-3_479-1del | XP_005260293.1:n.479-3_479-1del | |
| XM_011528478.1:c.74-3_74-1del | XP_011526780.1:n.74-3_74-1del | |
| XM_011528479.1:c.74-3_74-1del | XP_011526781.1:n.74-3_74-1del | |
| XR_244129.1:n.533-3_533-1del | ||
| NM_000022.3:c.479-3_479-1del | NP_000013.2:n.479-3_479-1del | |
| NM_001322050.1:c.74-3_74-1del | NP_001308979.1:n.74-3_74-1del | |
| NM_001322051.1:c.479-3_479-1del | NP_001308980.1:n.479-3_479-1del | |
| NR_136160.1:n.630-3_630-1del | ||
| NM_000022.4:c.479-3_479-1del MANE Select | NP_000013.2:n.479-3_479-1del | |
| NM_001322050.2:c.74-3_74-1del | NP_001308979.1:n.74-3_74-1del | |
| NM_001322051.2:c.479-3_479-1del | NP_001308980.1:n.479-3_479-1del | |
| NR_136160.2:n.571-3_571-1del |