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_000007.14:g.94628155_94628156insGC , CM000669.2:g.94628155_94628156insGC | GRCh38 |
| NC_000007.13:g.94257467_94257468insGC , CM000669.1:g.94257467_94257468insGC | GRCh37 |
| NC_000007.12:g.94095403_94095404insGC | NCBI36 |
| NG_008893.1:g.33055_33056insCG | |
| NG_008893.2:g.33055_33056insCG | |
| NG_008893.3:g.33418_33419insCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415788.3:c.498+47_498+48insCG (SGCE) | ENSP00000405313.2:n.498+47_498+48insCG | |
| ENST00000425444.2:c.*475_*476insCG (SGCE) | ENSP00000391892.1:n.*475_*476insCG | |
| ENST00000428696.7:c.390+47_390+48insCG (SGCE) | ENSP00000397536.3:n.390+47_390+48insCG | |
| ENST00000437425.7:c.267+47_267+48insCG (SGCE) | ENSP00000394061.2:n.267+47_267+48insCG | |
| ENST00000445866.7:c.390+47_390+48insCG (SGCE) | ENSP00000398930.2:n.390+47_390+48insCG | |
| ENST00000447873.6:c.390+47_390+48insCG (SGCE) | ENSP00000388734.1:n.390+47_390+48insCG | |
| ENST00000450385.6:c.*187+47_*187+48insCG (SGCE) | ENSP00000398344.2:n.*187+47_*187+48insCG | |
| ENST00000642169.1:c.110-4758_110-4757insCG (SGCE) | ENSP00000496346.1:n.110-4758_110-4757insC... | |
| ENST00000642291.1:c.251+47_251+48insCG (SGCE) | ||
| ENST00000642353.1:n.361+47_361+48insCG (SGCE) | ||
| ENST00000642394.1:c.267+47_267+48insCG (SGCE) | ENSP00000493751.1:n.267+47_267+48insCG | |
| ENST00000642441.1:c.390+47_390+48insCG (SGCE) | ENSP00000495994.1:n.390+47_390+48insCG | |
| ENST00000642564.1:n.490+47_490+48insCG (SGCE) | ||
| ENST00000642638.1:c.*428+47_*428+48insCG (SGCE) | ENSP00000495555.1:n.*428+47_*428+48insCG | |
| ENST00000642707.1:c.498+47_498+48insCG (SGCE) | ENSP00000495270.1:n.498+47_498+48insCG | |
| ENST00000642754.1:n.505_506insCG (SGCE) | ||
| ENST00000642759.1:n.479+47_479+48insCG (SGCE) | ||
| ENST00000642904.1:n.478+47_478+48insCG (SGCE) | ||
| ENST00000642933.1:c.390+47_390+48insCG (SGCE) | ENSP00000496237.1:n.390+47_390+48insCG | |
| ENST00000643020.1:c.337+47_337+48insCG (SGCE) | ||
| ENST00000643041.1:c.390+47_390+48insCG (SGCE) | ENSP00000495311.1:n.390+47_390+48insCG | |
| ENST00000643128.1:c.390+47_390+48insCG (SGCE) | ENSP00000496678.1:n.390+47_390+48insCG | |
| ENST00000643193.1:c.390+47_390+48insCG (SGCE) | ENSP00000496559.1:n.390+47_390+48insCG | |
| ENST00000643206.1:c.110-4758_110-4757insCG (SGCE) | ENSP00000496172.1:n.110-4758_110-4757insC... | |
| ENST00000643272.1:c.498+47_498+48insCG (SGCE) | ENSP00000494488.1:n.498+47_498+48insCG | |
| ENST00000643358.1:n.1694+47_1694+48insCG (SGCE) | ||
| ENST00000643368.1:n.252+47_252+48insCG (SGCE) | ||
| ENST00000643568.1:c.71+47_71+48insCG (SGCE) | ||
| ENST00000643605.1:c.*377+47_*377+48insCG (SGCE) | ENSP00000496480.1:n.*377+47_*377+48insCG | |
| ENST00000643610.1:c.390+47_390+48insCG (SGCE) | ENSP00000494350.1:n.390+47_390+48insCG | |
| ENST00000643714.1:n.458+47_458+48insCG (SGCE) | ||
| ENST00000643903.1:c.390+47_390+48insCG (SGCE) | ENSP00000495165.1:n.390+47_390+48insCG | |
| ENST00000643991.1:c.71+47_71+48insCG (SGCE) | ||
| ENST00000644087.1:c.*320+47_*320+48insCG (SGCE) | ENSP00000495249.1:n.*320+47_*320+48insCG | |
| ENST00000644116.1:c.390+47_390+48insCG (SGCE) | ENSP00000495276.1:n.390+47_390+48insCG | |
| ENST00000644122.1:c.390+47_390+48insCG (SGCE) | ENSP00000495236.1:n.390+47_390+48insCG | |
| ENST00000644201.1:c.372+47_372+48insCG (SGCE) | ENSP00000495044.1:n.372+47_372+48insCG | |
| ENST00000644375.1:c.390+47_390+48insCG (SGCE) | ENSP00000494315.1:n.390+47_390+48insCG | |
| ENST00000644551.1:c.390+47_390+48insCG (SGCE) | ENSP00000493981.1:n.390+47_390+48insCG | |
| ENST00000644609.1:c.390+47_390+48insCG (SGCE) | ENSP00000496045.1:n.390+47_390+48insCG | |
| ENST00000644639.1:c.390+47_390+48insCG (SGCE) | ENSP00000496391.1:n.390+47_390+48insCG | |
| ENST00000644674.1:n.291+47_291+48insCG (SGCE) | ||
| ENST00000644681.1:c.117+47_117+48insCG (SGCE) | ENSP00000496455.1:n.117+47_117+48insCG | |
| ENST00000644682.1:c.343+47_343+48insCG (SGCE) | ||
| ENST00000644816.1:c.390+47_390+48insCG (SGCE) | ENSP00000494898.1:n.390+47_390+48insCG | |
| ENST00000644924.1:n.173+1564_173+1565insCG (SGCE) | ||
| ENST00000644966.1:c.111+47_111+48insCG (SGCE) | ENSP00000495105.1:n.111+47_111+48insCG | |
| ENST00000645101.1:c.498+47_498+48insCG (SGCE) | ENSP00000494975.1:n.498+47_498+48insCG | |
| ENST00000645109.1:c.498+47_498+48insCG (SGCE) | ENSP00000495931.1:n.498+47_498+48insCG | |
| ENST00000645262.1:c.267+47_267+48insCG (SGCE) | ENSP00000494164.1:n.267+47_267+48insCG | |
| ENST00000645390.1:n.444+47_444+48insCG (SGCE) | ||
| ENST00000645445.1:c.388+47_388+48insCG (SGCE) | ||
| ENST00000645535.1:c.117+47_117+48insCG (SGCE) | ENSP00000493984.1:n.117+47_117+48insCG | |
| ENST00000645579.1:n.458+47_458+48insCG (SGCE) | ||
| ENST00000645725.1:c.390+47_390+48insCG (SGCE) | ENSP00000495480.1:n.390+47_390+48insCG | |
| ENST00000645920.1:c.*197+47_*197+48insCG (SGCE) | ENSP00000494490.1:n.*197+47_*197+48insCG | |
| ENST00000646098.1:c.390+47_390+48insCG (SGCE) | ENSP00000495591.1:n.390+47_390+48insCG | |
| ENST00000646119.1:c.364+47_364+48insCG (SGCE) | ||
| ENST00000646137.1:c.390+47_390+48insCG (SGCE) | ENSP00000495199.1:n.390+47_390+48insCG | |
| ENST00000646265.1:c.479+47_479+48insCG (SGCE) | ||
| ENST00000646301.1:c.363+47_363+48insCG (SGCE) | ||
| ENST00000646434.1:c.558+47_558+48insCG (SGCE) | ||
| ENST00000646466.1:c.*320+47_*320+48insCG (SGCE) | ENSP00000493511.1:n.*320+47_*320+48insCG | |
| ENST00000646489.1:c.498+47_498+48insCG (SGCE) | ENSP00000496268.1:n.498+47_498+48insCG | |
| ENST00000646559.1:c.*320+47_*320+48insCG (SGCE) | ENSP00000495838.1:n.*320+47_*320+48insCG | |
| ENST00000646600.1:c.*320+47_*320+48insCG (SGCE) | ENSP00000494041.1:n.*320+47_*320+48insCG | |
| ENST00000646682.1:c.*197+47_*197+48insCG (SGCE) | ENSP00000496461.1:n.*197+47_*197+48insCG | |
| ENST00000646761.1:n.381_382insCG (SGCE) | ||
| ENST00000646879.1:c.390+47_390+48insCG (SGCE) | ENSP00000495209.1:n.390+47_390+48insCG | |
| ENST00000646910.1:n.423+47_423+48insCG (SGCE) | ||
| ENST00000646943.1:c.390+47_390+48insCG (SGCE) | ENSP00000494666.1:n.390+47_390+48insCG | |
| ENST00000647018.1:c.498+47_498+48insCG (SGCE) | ENSP00000493722.1:n.498+47_498+48insCG | |
| ENST00000647048.1:c.214+47_214+48insCG (SGCE) | ||
| ENST00000647096.1:c.498+47_498+48insCG (SGCE) | ENSP00000494192.1:n.498+47_498+48insCG | |
| ENST00000647110.1:c.285+47_285+48insCG (SGCE) | ENSP00000494738.1:n.285+47_285+48insCG | |
| ENST00000647334.1:c.496+47_496+48insCG (SGCE) | ||
| ENST00000647351.1:c.390+47_390+48insCG (SGCE) | ENSP00000494556.1:n.390+47_390+48insCG | |
| ENST00000648936.2:c.390+47_390+48insCG (SGCE) MANE Select | ENSP00000497130.1:n.390+47_390+48insCG | |
| ENST00000265735.11:c.390+47_390+48insCG (SGCE) | ENSP00000265735.6:n.390+47_390+48insCG | |
| ENST00000415788.2:c.498+47_498+48insCG (SGCE) | ENSP00000405313.2:n.498+47_498+48insCG | |
| ENST00000425444.1:c.*320+47_*320+48insCG (SGCE) | ENSP00000391892.1:n.*320+47_*320+48insCG | |
| ENST00000428696.6:c.390+47_390+48insCG (SGCE) | ENSP00000397536.2:n.390+47_390+48insCG | |
| ENST00000437425.6:c.267+47_267+48insCG (SGCE) | ENSP00000394061.2:n.267+47_267+48insCG | |
| ENST00000445866.6:c.390+47_390+48insCG (SGCE) | ENSP00000398930.2:n.390+47_390+48insCG | |
| ENST00000447873.5:c.390+47_390+48insCG (SGCE) | ENSP00000388734.1:n.390+47_390+48insCG | |
| ENST00000450385.5:c.*428+47_*428+48insCG (SGCE) | ENSP00000398344.1:n.*428+47_*428+48insCG | |
| NM_001099400.1:c.390+47_390+48insCG (SGCE) | NP_001092870.1:n.390+47_390+48insCG | |
| NM_001099401.1:c.390+47_390+48insCG (SGCE) | NP_001092871.1:n.390+47_390+48insCG | |
| NM_001301139.1:c.267+47_267+48insCG (SGCE) | NP_001288068.1:n.267+47_267+48insCG | |
| NM_003919.2:c.390+47_390+48insCG (SGCE) | NP_003910.1:n.390+47_390+48insCG | |
| XM_005250675.3:c.498+47_498+48insCG (SGCE) | XP_005250732.1:n.498+47_498+48insCG | |
| XM_005250677.3:c.498+47_498+48insCG (SGCE) | XP_005250734.1:n.498+47_498+48insCG | |
| XM_011516495.1:c.2128-3161_2128-3160insGC (CASD1) | XP_011514797.1:n.2128-3161_2128-3160insGC... | |
| XM_011516663.1:c.498+47_498+48insCG (SGCE) | XP_011514965.1:n.498+47_498+48insCG | |
| XM_011516664.1:c.498+47_498+48insCG (SGCE) | XP_011514966.1:n.498+47_498+48insCG | |
| XM_011516665.1:c.390+47_390+48insCG (SGCE) | XP_011514967.1:n.390+47_390+48insCG | |
| XM_011516666.1:c.390+47_390+48insCG (SGCE) | XP_011514968.1:n.390+47_390+48insCG | |
| XM_011516667.1:c.303+47_303+48insCG (SGCE) | XP_011514969.1:n.303+47_303+48insCG | |
| XM_011516668.1:c.267+47_267+48insCG (SGCE) | XP_011514970.1:n.267+47_267+48insCG | |
| XM_011516669.1:c.117+47_117+48insCG (SGCE) | XP_011514971.1:n.117+47_117+48insCG | |
| NM_001346713.1:c.498+47_498+48insCG (SGCE) | NP_001333642.1:n.498+47_498+48insCG | |
| NM_001346715.1:c.498+47_498+48insCG (SGCE) | NP_001333644.1:n.498+47_498+48insCG | |
| NM_001346717.1:c.390+47_390+48insCG (SGCE) | NP_001333646.1:n.390+47_390+48insCG | |
| NM_001346719.1:c.303+47_303+48insCG (SGCE) | NP_001333648.1:n.303+47_303+48insCG | |
| NM_001346720.1:c.117+47_117+48insCG (SGCE) | NP_001333649.1:n.117+47_117+48insCG | |
| NM_001362807.1:c.303+47_303+48insCG (SGCE) | NP_001349736.1:n.303+47_303+48insCG | |
| NM_001362808.1:c.117+47_117+48insCG (SGCE) | NP_001349737.1:n.117+47_117+48insCG | |
| NM_001362809.1:c.267+47_267+48insCG (SGCE) | NP_001349738.1:n.267+47_267+48insCG | |
| XM_011516495.2:c.2128-3161_2128-3160insGC (CASD1) | XP_011514797.1:n.2128-3161_2128-3160insGC... | |
| XM_011516663.2:c.498+47_498+48insCG (SGCE) | XP_011514965.1:n.498+47_498+48insCG | |
| XM_011516664.2:c.498+47_498+48insCG (SGCE) | XP_011514966.1:n.498+47_498+48insCG | |
| XM_011516665.3:c.390+47_390+48insCG (SGCE) | XP_011514967.1:n.390+47_390+48insCG | |
| XM_011516666.3:c.390+47_390+48insCG (SGCE) | XP_011514968.1:n.390+47_390+48insCG | |
| XM_011516667.2:c.303+47_303+48insCG (SGCE) | XP_011514969.1:n.303+47_303+48insCG | |
| XM_011516669.3:c.117+47_117+48insCG (SGCE) | XP_011514971.1:n.117+47_117+48insCG | |
| XM_017012763.1:c.303+47_303+48insCG (SGCE) | XP_016868252.1:n.303+47_303+48insCG | |
| XM_017012767.1:c.117+47_117+48insCG (SGCE) | XP_016868256.1:n.117+47_117+48insCG | |
| XM_024446985.1:c.267+47_267+48insCG (SGCE) | XP_024302753.1:n.267+47_267+48insCG | |
| XM_024446986.1:c.267+47_267+48insCG (SGCE) | XP_024302754.1:n.267+47_267+48insCG | |
| NM_001099400.2:c.390+47_390+48insCG (SGCE) | NP_001092870.1:n.390+47_390+48insCG | |
| NM_001099401.2:c.390+47_390+48insCG (SGCE) | NP_001092871.1:n.390+47_390+48insCG | |
| NM_001301139.2:c.267+47_267+48insCG (SGCE) | NP_001288068.1:n.267+47_267+48insCG | |
| NM_001346713.2:c.498+47_498+48insCG (SGCE) | NP_001333642.1:n.498+47_498+48insCG | |
| NM_001346715.2:c.498+47_498+48insCG (SGCE) | NP_001333644.1:n.498+47_498+48insCG | |
| NM_001346717.2:c.390+47_390+48insCG (SGCE) | NP_001333646.1:n.390+47_390+48insCG | |
| NM_001346719.2:c.303+47_303+48insCG (SGCE) | NP_001333648.1:n.303+47_303+48insCG | |
| NM_001346720.2:c.117+47_117+48insCG (SGCE) | NP_001333649.1:n.117+47_117+48insCG | |
| NM_001362807.2:c.303+47_303+48insCG (SGCE) | NP_001349736.1:n.303+47_303+48insCG | |
| NM_001362808.2:c.117+47_117+48insCG (SGCE) | NP_001349737.1:n.117+47_117+48insCG | |
| NM_001362809.2:c.267+47_267+48insCG (SGCE) | NP_001349738.1:n.267+47_267+48insCG | |
| NM_003919.3:c.390+47_390+48insCG (SGCE) MANE Select | NP_003910.1:n.390+47_390+48insCG |