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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71216735_71216736insTGAAAAATGAATTTCTTGCGCTTCGCTCATTTTTCACGTGGATTGTAAATGTTTCAAGTGGATCTGAATACATATAAAGATAATCAAGAGGATACGTTTCCGGTATTTGTTCAA , CM000670.2:g.71216735_71216736insTGAAAAATGAATTTCTTGCGCTTCGCTCATTTTTCACGTGGATTGTAAATGTTTCAAGTGGATCTGAATACATATAAAGATAATCAAGAGGATACGTTTCCGGTATTTGTTCAA | GRCh38 |
| NC_000008.10:g.72128970_72128971insTGAAAAATGAATTTCTTGCGCTTCGCTCATTTTTCACGTGGATTGTAAATGTTTCAAGTGGATCTGAATACATATAAAGATAATCAAGAGGATACGTTTCCGGTATTTGTTCAA , CM000670.1:g.72128970_72128971insTGAAAAATGAATTTCTTGCGCTTCGCTCATTTTTCACGTGGATTGTAAATGTTTCAAGTGGATCTGAATACATATAAAGATAATCAAGAGGATACGTTTCCGGTATTTGTTCAA | GRCh37 |
| NC_000008.9:g.72291524_72291525insTGAAAAATGAATTTCTTGCGCTTCGCTCATTTTTCACGTGGATTGTAAATGTTTCAAGTGGATCTGAATACATATAAAGATAATCAAGAGGATACGTTTCCGGTATTTGTTCAA | NCBI36 |
| NG_011735.2:g.150497_150498insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | |
| NG_011735.3:g.336395_336396insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340726.8:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA MANE Select | ENSP00000342626.3:p.Arg439SerfsTer2 | |
| ENST00000388741.7:c.1214_1215insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000373393.2:p.Arg405SerfsTer2 | |
| ENST00000419131.6:c.1211_1212insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000410176.1:p.Arg404SerfsTer2 | |
| ENST00000465115.6:c.*595_*596insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000428391.1:n.*595_*596insTTGAACAAA... | |
| ENST00000493349.2:c.706_707insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ||
| ENST00000496494.6:n.1779_1780insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ||
| ENST00000642391.1:c.*993_*994insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000496700.1:n.*993_*994insTTGAACAAA... | |
| ENST00000643681.1:c.1403_1404insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000495390.1:p.Arg468SerfsTer2 | |
| ENST00000644229.1:c.1298_1299insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000494568.1:p.Arg433SerfsTer2 | |
| ENST00000644424.1:n.386_387insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ||
| ENST00000644712.1:c.1295_1296insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000496188.1:p.Arg432SerfsTer2 | |
| ENST00000645793.1:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000496255.1:p.Arg439SerfsTer2 | |
| ENST00000647540.1:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000494438.1:p.Arg439SerfsTer2 | |
| ENST00000303824.11:c.1298_1299insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000303221.7:p.Arg433SerfsTer2 | |
| ENST00000340726.7:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000342626.3:p.Arg439SerfsTer2 | |
| ENST00000388740.4:c.1217_1218insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000373392.3:p.Arg406SerfsTer2 | |
| ENST00000388741.6:c.1214_1215insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000373393.2:p.Arg405SerfsTer2 | |
| ENST00000388742.8:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000373394.4:p.Arg439SerfsTer2 | |
| ENST00000388743.6:c.1313_1314insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000373395.2:p.Arg438SerfsTer2 | |
| ENST00000419131.5:c.1211_1212insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000410176.1:p.Arg404SerfsTer2 | |
| ENST00000465115.5:c.*595_*596insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000428391.1:n.*595_*596insTTGAACAAA... | |
| ENST00000493349.1:c.*261_*262insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ENSP00000428517.1:n.*261_*262insTTGAACAAA... | |
| ENST00000496494.5:n.1811_1812insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | ||
| NM_000503.5:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_000494.2:p.Arg439SerfsTer2 | |
| NM_001288574.1:c.1298_1299insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_001275503.1:p.Arg433SerfsTer2 | |
| NM_001288575.1:c.950_951insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_001275504.1:p.Arg317SerfsTer2 | |
| NM_172058.3:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_742055.1:p.Arg439SerfsTer2 | |
| NM_172059.3:c.1211_1212insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_742056.1:p.Arg404SerfsTer2 | |
| NM_172060.3:c.1217_1218insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_742057.1:p.Arg406SerfsTer2 | |
| XM_011517481.1:c.1388_1389insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515783.1:p.Arg463SerfsTer2 | |
| XM_011517482.1:c.1403_1404insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515784.1:p.Arg468SerfsTer2 | |
| XM_011517483.1:c.1313_1314insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515785.1:p.Arg438SerfsTer2 | |
| XM_011517484.1:c.1301_1302insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515786.1:p.Arg434SerfsTer2 | |
| XM_011517485.1:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515787.1:p.Arg439SerfsTer2 | |
| XM_011517486.1:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515788.1:p.Arg439SerfsTer2 | |
| XM_011517487.1:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515789.1:p.Arg439SerfsTer2 | |
| XM_011517488.1:c.1313_1314insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515790.1:p.Arg438SerfsTer2 | |
| XM_011517489.1:c.1253_1254insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515791.1:p.Arg418SerfsTer2 | |
| XM_011517490.1:c.1217_1218insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515792.1:p.Arg406SerfsTer2 | |
| XM_011517491.1:c.1217_1218insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515793.1:p.Arg406SerfsTer2 | |
| XM_011517492.1:c.965_966insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515794.1:p.Arg322SerfsTer2 | |
| NM_172059.4:c.1298_1299insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_742056.2:p.Arg433SerfsTer2 | |
| XM_011517483.2:c.1313_1314insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515785.1:p.Arg438SerfsTer2 | |
| XM_011517484.3:c.1388_1389insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_011515786.2:p.Arg463SerfsTer2 | |
| XM_017013201.1:c.1403_1404insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868690.1:p.Arg468SerfsTer2 | |
| XM_017013202.1:c.1403_1404insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868691.1:p.Arg468SerfsTer2 | |
| XM_017013203.2:c.1400_1401insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868692.1:p.Arg467SerfsTer2 | |
| XM_017013204.2:c.1385_1386insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868693.1:p.Arg462SerfsTer2 | |
| XM_017013205.2:c.1403_1404insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868694.1:p.Arg468SerfsTer2 | |
| XM_017013206.1:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868695.1:p.Arg439SerfsTer2 | |
| XM_017013207.2:c.1313_1314insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868696.1:p.Arg438SerfsTer2 | |
| XM_017013208.2:c.1313_1314insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868697.1:p.Arg438SerfsTer2 | |
| XM_017013210.2:c.1295_1296insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868699.1:p.Arg432SerfsTer2 | |
| XM_017013211.2:c.1253_1254insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868700.1:p.Arg418SerfsTer2 | |
| XM_017013212.2:c.1217_1218insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868701.1:p.Arg406SerfsTer2 | |
| XM_017013213.1:c.965_966insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | XP_016868702.1:p.Arg322SerfsTer2 | |
| NM_000503.6:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA MANE Select | NP_000494.2:p.Arg439SerfsTer2 | |
| NM_001288574.2:c.1298_1299insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_001275503.1:p.Arg433SerfsTer2 | |
| NM_001288575.2:c.950_951insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_001275504.1:p.Arg317SerfsTer2 | |
| NM_001370333.1:c.1403_1404insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_001357262.1:p.Arg468SerfsTer2 | |
| NM_001370334.1:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_001357263.1:p.Arg439SerfsTer2 | |
| NM_001370335.1:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_001357264.1:p.Arg439SerfsTer2 | |
| NM_001370336.1:c.1295_1296insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_001357265.1:p.Arg432SerfsTer2 | |
| NM_172058.4:c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_742055.1:p.Arg439SerfsTer2 | |
| NM_172059.5:c.1298_1299insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA | NP_742056.2:p.Arg433SerfsTer2 |