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_000017.11:g.43093845_43093894delinsAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA , CM000679.2:g.43093845_43093894delinsAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA | GRCh38 |
| NC_000017.10:g.41245862_41245911delinsAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA , CM000679.1:g.41245862_41245911delinsAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA | GRCh37 |
| NC_000017.9:g.38499388_38499437delinsAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA | NCBI36 |
| NG_005905.2:g.124090_124139delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT , LRG_292:g.124090_124139delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1701_1750delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ||
| ENST00000461574.2:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000417241.2:p.Met546= | |
| ENST00000470026.6:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000419274.2:p.Met546= | |
| ENST00000473961.6:c.1511_1560delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000420201.2:p.Met504= | |
| ENST00000476777.6:c.1634_1683delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000417554.2:p.Met545= | |
| ENST00000477152.6:c.1559_1608delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000419988.2:p.Met520= | |
| ENST00000478531.6:c.784+850_784+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000420412.2:n.784+850_784+899delins... | |
| ENST00000489037.2:c.1559_1608delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000420781.2:p.Met520= | |
| ENST00000493919.6:c.646+850_646+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000418819.2:n.646+850_646+899delins... | |
| ENST00000494123.6:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000419103.2:p.Met546= | |
| ENST00000497488.2:c.749_798delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000418986.2:p.Met250= | |
| ENST00000618469.2:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000478114.2:p.Met546= | |
| ENST00000634433.2:c.1514_1563delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000489431.2:p.Met505= | |
| ENST00000644379.2:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000496570.2:p.Met546= | |
| ENST00000644555.2:c.646+850_646+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000494614.2:n.646+850_646+899delins... | |
| ENST00000652672.2:c.1496_1545delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000498906.2:p.Met499= | |
| ENST00000484087.6:c.664+850_664+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000419481.2:n.664+850_664+899delins... | |
| ENST00000700182.1:c.706+850_706+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000514849.1:n.706+850_706+899delins... | |
| ENST00000357654.9:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT MANE Select | ENSP00000350283.3:p.Met546= | |
| ENST00000471181.7:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000418960.2:p.Met546= | |
| ENST00000652672.1:c.1496_1545delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000498906.1:p.Met499= | |
| ENST00000352993.7:c.670+1952_670+2001delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000312236.5:n.670+1952_670+2001deli... | |
| ENST00000354071.7:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000326002.7:p.Met546= | |
| ENST00000357654.7:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000350283.3:p.Met546= | |
| ENST00000412061.3:c.988_1037delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ||
| ENST00000461221.5:c.*1420_*1469delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000418548.1:n.*1420_*1469delinsTGAA... | |
| ENST00000468300.5:c.787+850_787+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000417148.1:n.787+850_787+899delins... | |
| ENST00000470026.5:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000419274.1:p.Met546= | |
| ENST00000471181.6:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000418960.2:p.Met546= | |
| ENST00000477152.5:c.1559_1608delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000419988.1:p.Met520= | |
| ENST00000478531.5:c.784+850_784+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000420412.1:n.784+850_784+899delins... | |
| ENST00000484087.5:c.409+850_409+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000419481.1:n.409+850_409+899delins... | |
| ENST00000487825.5:c.412+850_412+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000418212.1:n.412+850_412+899delins... | |
| ENST00000491747.6:c.787+850_787+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000420705.2:n.787+850_787+899delins... | |
| ENST00000493795.5:c.1496_1545delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000418775.1:p.Met499= | |
| ENST00000493919.5:c.646+850_646+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000418819.1:n.646+850_646+899delins... | |
| ENST00000586385.5:c.5-29943_5-29894delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000465818.1:n.5-29943_5-29894delins... | |
| ENST00000591534.5:c.-43-19373_-43-19324delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000467329.1:n.-43-19373_-43-19324de... | |
| ENST00000591849.5:c.-99+31377_-99+31426delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000465347.1:n.-99+31377_-99+31426de... | |
| ENST00000634433.1:c.1514_1563delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ENSP00000489431.1:p.Met505= | |
| NM_007294.3:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT , LRG_292t1:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | NP_009225.1:p.Met546= | |
| NM_007297.3:c.1496_1545delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | NP_009228.2:p.Met499= | |
| NM_007298.3:c.787+850_787+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | NP_009229.2:n.787+850_787+899delinsTGAATA... | |
| NM_007299.3:c.787+850_787+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | NP_009230.2:n.787+850_787+899delinsTGAATA... | |
| NM_007300.3:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | NP_009231.2:p.Met546= | |
| NR_027676.1:n.1773_1822delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | ||
| NM_007294.4:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT MANE Select | NP_009225.1:p.Met546= | |
| NM_007297.4:c.1496_1545delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | NP_009228.2:p.Met499= | |
| NM_007299.4:c.787+850_787+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | NP_009230.2:n.787+850_787+899delinsTGAATA... | |
| NM_007300.4:c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | NP_009231.2:p.Met546= | |
| NR_027676.2:n.1814_1863delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT |