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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44625425_44625426delinsGC , CM000682.2:g.44625425_44625426delinsGC | GRCh38 |
| NC_000020.10:g.43254066_43254067delinsGC , CM000682.1:g.43254066_43254067delinsGC | GRCh37 |
| NC_000020.9:g.42687480_42687481delinsGC | NCBI36 |
| NG_007385.1:g.31310_31311delinsGC , LRG_16:g.31310_31311delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.569+143_569+144delinsGC | ||
| ENST00000536076.2:c.325+143_325+144delinsGC | ENSP00000512234.1:n.325+143_325+144delins... | |
| ENST00000536532.6:c.478+143_478+144delinsGC | ENSP00000440946.1:n.478+143_478+144delins... | |
| ENST00000537820.2:c.478+143_478+144delinsGC | ENSP00000441818.1:n.478+143_478+144delins... | |
| ENST00000539235.6:c.219-2348_219-2347delinsGC | ENSP00000446464.1:n.219-2348_219-2347deli... | |
| ENST00000695889.1:c.219-2496_219-2495delinsGC | ENSP00000512240.1:n.219-2496_219-2495deli... | |
| ENST00000695890.1:n.2281+143_2281+144delinsGC | ||
| ENST00000695891.1:c.219-2496_219-2495delinsGC | ENSP00000512241.1:n.219-2496_219-2495deli... | |
| ENST00000695927.1:c.556+143_556+144delinsGC | ENSP00000512270.1:n.556+143_556+144delins... | |
| ENST00000695949.1:c.475+143_475+144delinsGC | ENSP00000512281.1:n.475+143_475+144delins... | |
| ENST00000695957.1:c.362+1030_362+1031delinsGC | ENSP00000512286.1:n.362+1030_362+1031deli... | |
| ENST00000695991.1:c.217-2496_217-2495delinsGC | ENSP00000512314.1:n.217-2496_217-2495deli... | |
| ENST00000695992.1:c.478+143_478+144delinsGC | ENSP00000512315.1:n.478+143_478+144delins... | |
| ENST00000695993.1:c.478+143_478+144delinsGC | ENSP00000512316.1:n.478+143_478+144delins... | |
| ENST00000695994.1:c.478+143_478+144delinsGC | ENSP00000512317.1:n.478+143_478+144delins... | |
| ENST00000695995.1:c.217-2348_217-2347delinsGC | ENSP00000512318.1:n.217-2348_217-2347deli... | |
| ENST00000695996.1:n.549+143_549+144delinsGC | ||
| ENST00000695997.1:n.433+1030_433+1031delinsGC | ||
| ENST00000696003.1:n.570+143_570+144delinsGC | ||
| ENST00000696004.1:n.570+143_570+144delinsGC | ||
| ENST00000696006.1:c.478+143_478+144delinsGC | ENSP00000512325.1:n.478+143_478+144delins... | |
| ENST00000696007.1:c.329+1030_329+1031delinsGC | ENSP00000512326.1:n.329+1030_329+1031deli... | |
| ENST00000696008.1:n.537_538delinsGC | ||
| ENST00000696009.1:n.732_733delinsGC | ||
| ENST00000696017.1:c.475+143_475+144delinsGC | ENSP00000512333.1:n.475+143_475+144delins... | |
| ENST00000696034.1:c.478+143_478+144delinsGC | ENSP00000512343.1:n.478+143_478+144delins... | |
| ENST00000696035.1:n.588+143_588+144delinsGC | ||
| ENST00000696036.1:n.1168+143_1168+144delinsGC | ||
| ENST00000696037.1:n.2155+143_2155+144delinsGC | ||
| ENST00000696038.1:c.*224+143_*224+144delinsGC | ENSP00000512344.1:n.*224+143_*224+144deli... | |
| ENST00000696039.1:n.766+143_766+144delinsGC | ||
| ENST00000696058.1:c.478+143_478+144delinsGC | ENSP00000512361.1:n.478+143_478+144delins... | |
| ENST00000696059.1:c.*423+143_*423+144delinsGC | ENSP00000512362.1:n.*423+143_*423+144deli... | |
| ENST00000696060.1:c.478+143_478+144delinsGC | ENSP00000512363.1:n.478+143_478+144delins... | |
| ENST00000696061.1:c.475+143_475+144delinsGC | ENSP00000512364.1:n.475+143_475+144delins... | |
| ENST00000696062.1:c.541+143_541+144delinsGC | ENSP00000512365.1:n.541+143_541+144delins... | |
| ENST00000696063.1:c.553+143_553+144delinsGC | ENSP00000512366.1:n.553+143_553+144delins... | |
| ENST00000696064.1:c.325+143_325+144delinsGC | ENSP00000512367.1:n.325+143_325+144delins... | |
| ENST00000696065.1:c.66-2496_66-2495delinsGC | ENSP00000512368.1:n.66-2496_66-2495delins... | |
| ENST00000696075.1:c.*448+143_*448+144delinsGC | ENSP00000512374.1:n.*448+143_*448+144deli... | |
| ENST00000696076.1:c.478+143_478+144delinsGC | ENSP00000512375.1:n.478+143_478+144delins... | |
| ENST00000696077.1:c.475+143_475+144delinsGC | ENSP00000512376.1:n.475+143_475+144delins... | |
| ENST00000696078.1:c.478+143_478+144delinsGC | ENSP00000512377.1:n.478+143_478+144delins... | |
| ENST00000696079.1:c.478+143_478+144delinsGC | ENSP00000512378.1:n.478+143_478+144delins... | |
| ENST00000696080.1:c.478+143_478+144delinsGC | ENSP00000512379.1:n.478+143_478+144delins... | |
| ENST00000696082.1:c.556+143_556+144delinsGC | ENSP00000512380.1:n.556+143_556+144delins... | |
| ENST00000696083.1:n.263_264delinsGC | ||
| ENST00000696084.1:n.579+143_579+144delinsGC | ||
| ENST00000696104.1:c.362+1030_362+1031delinsGC | ENSP00000512399.1:n.362+1030_362+1031deli... | |
| ENST00000696105.1:c.478+143_478+144delinsGC | ENSP00000512400.1:n.478+143_478+144delins... | |
| ENST00000372874.9:c.478+143_478+144delinsGC MANE Select | ENSP00000361965.4:n.478+143_478+144delins... | |
| ENST00000372874.8:c.478+143_478+144delinsGC | ENSP00000361965.4:n.478+143_478+144delins... | |
| ENST00000464097.5:n.152+143_152+144delinsGC | ||
| ENST00000492931.5:n.562+143_562+144delinsGC | ||
| ENST00000536532.5:c.478+143_478+144delinsGC | ENSP00000440946.1:n.478+143_478+144delins... | |
| ENST00000537820.1:c.478+143_478+144delinsGC | ENSP00000441818.1:n.478+143_478+144delins... | |
| ENST00000539235.5:c.219-2348_219-2347delinsGC | ENSP00000446464.1:n.219-2348_219-2347deli... | |
| NM_000022.2:c.478+143_478+144delinsGC , LRG_16t1:c.478+143_478+144delinsGC | NP_000013.2:n.478+143_478+144delinsGC | |
| XM_005260236.2:c.478+143_478+144delinsGC | XP_005260293.1:n.478+143_478+144delinsGC | |
| XM_011528478.1:c.73+1030_73+1031delinsGC | XP_011526780.1:n.73+1030_73+1031delinsGC | |
| XM_011528479.1:c.73+1030_73+1031delinsGC | XP_011526781.1:n.73+1030_73+1031delinsGC | |
| XR_244129.1:n.532+143_532+144delinsGC | ||
| NM_000022.3:c.478+143_478+144delinsGC | NP_000013.2:n.478+143_478+144delinsGC | |
| NM_001322050.1:c.73+1030_73+1031delinsGC | NP_001308979.1:n.73+1030_73+1031delinsGC | |
| NM_001322051.1:c.478+143_478+144delinsGC | NP_001308980.1:n.478+143_478+144delinsGC | |
| NR_136160.1:n.629+143_629+144delinsGC | ||
| NM_000022.4:c.478+143_478+144delinsGC MANE Select | NP_000013.2:n.478+143_478+144delinsGC | |
| NM_001322050.2:c.73+1030_73+1031delinsGC | NP_001308979.1:n.73+1030_73+1031delinsGC | |
| NM_001322051.2:c.478+143_478+144delinsGC | NP_001308980.1:n.478+143_478+144delinsGC | |
| NR_136160.2:n.570+143_570+144delinsGC |