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.143933117_143933119delinsGCA , CM000670.2:g.143933117_143933119delinsGCA | GRCh38 |
| NC_000008.10:g.145007285_145007287delinsGCA , CM000670.1:g.145007285_145007287delinsGCA | GRCh37 |
| NC_000008.9:g.145079273_145079275delinsGCA | NCBI36 |
| NG_012492.1:g.48627_48629delinsTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.1551-8_1551-6delinsTGC | ENSP00000437303.2:n.1551-8_1551-6delinsTGC | |
| ENST00000685198.1:c.1470-8_1470-6delinsTGC | ENSP00000510528.1:n.1470-8_1470-6delinsTGC | |
| ENST00000687971.1:c.1137-8_1137-6delinsTGC | ENSP00000510788.1:n.1137-8_1137-6delinsTGC | |
| ENST00000693060.1:c.1350-8_1350-6delinsTGC | ENSP00000510329.1:n.1350-8_1350-6delinsTGC | |
| ENST00000345136.8:c.1419-8_1419-6delinsTGC MANE Select | ENSP00000344848.3:n.1419-8_1419-6delinsTGC | |
| ENST00000527303.2:c.1500-8_1500-6delinsTGC | ENSP00000433982.2:n.1500-8_1500-6delinsTGC | |
| ENST00000322810.8:c.1830-8_1830-6delinsTGC | ENSP00000323856.4:n.1830-8_1830-6delinsTGC | |
| ENST00000345136.7:c.1419-8_1419-6delinsTGC | ENSP00000344848.3:n.1419-8_1419-6delinsTGC | |
| ENST00000354589.7:c.1419-8_1419-6delinsTGC | ENSP00000346602.3:n.1419-8_1419-6delinsTGC | |
| ENST00000354958.6:c.1353-8_1353-6delinsTGC | ENSP00000347044.2:n.1353-8_1353-6delinsTGC | |
| ENST00000356346.7:c.1377-8_1377-6delinsTGC MANE Plus Clinical | ENSP00000348702.3:n.1377-8_1377-6delinsTGC | |
| ENST00000357649.6:c.1431-8_1431-6delinsTGC | ENSP00000350277.2:n.1431-8_1431-6delinsTGC | |
| ENST00000398774.6:c.1323-8_1323-6delinsTGC | ENSP00000381756.2:n.1323-8_1323-6delinsTGC | |
| ENST00000436759.6:c.1500-8_1500-6delinsTGC | ENSP00000388180.2:n.1500-8_1500-6delinsTGC | |
| ENST00000527096.5:c.1488-8_1488-6delinsTGC | ENSP00000434583.1:n.1488-8_1488-6delinsTGC | |
| ENST00000528025.5:c.1551-8_1551-6delinsTGC | ENSP00000437303.1:n.1551-8_1551-6delinsTGC | |
| NM_000445.4:c.1500-8_1500-6delinsTGC | NP_000436.2:n.1500-8_1500-6delinsTGC | |
| NM_201378.3:c.1377-8_1377-6delinsTGC | NP_958780.1:n.1377-8_1377-6delinsTGC | |
| NM_201379.2:c.1353-8_1353-6delinsTGC | NP_958781.1:n.1353-8_1353-6delinsTGC | |
| NM_201380.3:c.1830-8_1830-6delinsTGC | NP_958782.1:n.1830-8_1830-6delinsTGC | |
| NM_201381.2:c.1323-8_1323-6delinsTGC | NP_958783.1:n.1323-8_1323-6delinsTGC | |
| NM_201382.3:c.1419-8_1419-6delinsTGC | NP_958784.1:n.1419-8_1419-6delinsTGC | |
| NM_201383.2:c.1431-8_1431-6delinsTGC | NP_958785.1:n.1431-8_1431-6delinsTGC | |
| NM_201384.2:c.1419-8_1419-6delinsTGC | NP_958786.1:n.1419-8_1419-6delinsTGC | |
| XM_005250976.2:c.1845-8_1845-6delinsTGC | XP_005251033.1:n.1845-8_1845-6delinsTGC | |
| XM_005250978.2:c.1446-8_1446-6delinsTGC | XP_005251035.1:n.1446-8_1446-6delinsTGC | |
| XM_005250979.3:c.1434-8_1434-6delinsTGC | XP_005251036.1:n.1434-8_1434-6delinsTGC | |
| XM_005250980.3:c.1434-8_1434-6delinsTGC | XP_005251037.1:n.1434-8_1434-6delinsTGC | |
| XM_005250981.2:c.1392-8_1392-6delinsTGC | XP_005251038.1:n.1392-8_1392-6delinsTGC | |
| XM_005250982.2:c.1368-8_1368-6delinsTGC | XP_005251039.1:n.1368-8_1368-6delinsTGC | |
| XM_005250983.2:c.1350-8_1350-6delinsTGC | XP_005251040.1:n.1350-8_1350-6delinsTGC | |
| XM_005250984.3:c.1338-8_1338-6delinsTGC | XP_005251041.1:n.1338-8_1338-6delinsTGC | |
| XM_006716588.2:c.1515-8_1515-6delinsTGC | XP_006716651.1:n.1515-8_1515-6delinsTGC | |
| XM_006716589.2:c.1365-8_1365-6delinsTGC | XP_006716652.1:n.1365-8_1365-6delinsTGC | |
| XM_006716590.2:c.1365-8_1365-6delinsTGC | XP_006716653.1:n.1365-8_1365-6delinsTGC | |
| XM_011517130.1:c.1434-8_1434-6delinsTGC | XP_011515432.1:n.1434-8_1434-6delinsTGC | |
| XM_011517131.1:c.1350-8_1350-6delinsTGC | XP_011515433.1:n.1350-8_1350-6delinsTGC | |
| XM_011517132.1:c.1446-8_1446-6delinsTGC | XP_011515434.1:n.1446-8_1446-6delinsTGC | |
| XM_005250976.4:c.1845-8_1845-6delinsTGC | XP_005251033.1:n.1845-8_1845-6delinsTGC | |
| XM_005250978.3:c.1446-8_1446-6delinsTGC | XP_005251035.1:n.1446-8_1446-6delinsTGC | |
| XM_005250979.4:c.1434-8_1434-6delinsTGC | XP_005251036.1:n.1434-8_1434-6delinsTGC | |
| XM_005250980.4:c.1434-8_1434-6delinsTGC | XP_005251037.1:n.1434-8_1434-6delinsTGC | |
| XM_005250981.3:c.1392-8_1392-6delinsTGC | XP_005251038.1:n.1392-8_1392-6delinsTGC | |
| XM_005250982.4:c.1368-8_1368-6delinsTGC | XP_005251039.1:n.1368-8_1368-6delinsTGC | |
| XM_005250984.5:c.1338-8_1338-6delinsTGC | XP_005251041.1:n.1338-8_1338-6delinsTGC | |
| XM_006716588.3:c.1515-8_1515-6delinsTGC | XP_006716651.1:n.1515-8_1515-6delinsTGC | |
| XM_006716590.3:c.1365-8_1365-6delinsTGC | XP_006716653.1:n.1365-8_1365-6delinsTGC | |
| XM_011517130.2:c.1434-8_1434-6delinsTGC | XP_011515432.1:n.1434-8_1434-6delinsTGC | |
| XM_011517131.2:c.1350-8_1350-6delinsTGC | XP_011515433.1:n.1350-8_1350-6delinsTGC | |
| XM_011517132.2:c.1446-8_1446-6delinsTGC | XP_011515434.1:n.1446-8_1446-6delinsTGC | |
| NM_000445.5:c.1500-8_1500-6delinsTGC | NP_000436.2:n.1500-8_1500-6delinsTGC | |
| NM_201378.4:c.1377-8_1377-6delinsTGC MANE Plus Clinical | NP_958780.1:n.1377-8_1377-6delinsTGC | |
| NM_201379.3:c.1353-8_1353-6delinsTGC | NP_958781.1:n.1353-8_1353-6delinsTGC | |
| NM_201380.4:c.1830-8_1830-6delinsTGC | NP_958782.1:n.1830-8_1830-6delinsTGC | |
| NM_201381.3:c.1323-8_1323-6delinsTGC | NP_958783.1:n.1323-8_1323-6delinsTGC | |
| NM_201382.4:c.1419-8_1419-6delinsTGC | NP_958784.1:n.1419-8_1419-6delinsTGC | |
| NM_201383.3:c.1431-8_1431-6delinsTGC | NP_958785.1:n.1431-8_1431-6delinsTGC | |
| NM_201384.3:c.1419-8_1419-6delinsTGC MANE Select | NP_958786.1:n.1419-8_1419-6delinsTGC |