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_000014.9:g.73211324_73211325insC , CM000676.2:g.73211324_73211325insC | GRCh38 |
| NC_000014.8:g.73678032_73678033insC , CM000676.1:g.73678032_73678033insC | GRCh37 |
| NC_000014.7:g.72747785_72747786insC | NCBI36 |
| NG_007386.2:g.79854_79855insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.944-445_944-444insC | ENSP00000452477.2:n.944-445_944-444insC | |
| ENST00000554131.6:c.956-445_956-444insC | ENSP00000451915.2:n.956-445_956-444insC | |
| ENST00000554995.2:n.1706-445_1706-444insC | ||
| ENST00000555386.6:c.1036-445_1036-444insC | ENSP00000450845.1:n.1036-445_1036-444insC | |
| ENST00000556066.2:n.1382-445_1382-444insC | ||
| ENST00000556951.6:c.944-445_944-444insC | ENSP00000450551.2:n.944-445_944-444insC | |
| ENST00000557293.6:c.836-445_836-444insC | ENSP00000451880.2:n.836-445_836-444insC | |
| ENST00000559361.6:c.*900-445_*900-444insC | ENSP00000454156.1:n.*900-445_*900-444insC | |
| ENST00000697912.1:c.944-445_944-444insC | ENSP00000513477.1:n.944-445_944-444insC | |
| ENST00000697913.1:n.6061_6062insC | ||
| ENST00000700265.1:c.944-445_944-444insC | ENSP00000514901.1:n.944-445_944-444insC | |
| ENST00000700266.1:c.*1168-445_*1168-444insC | ENSP00000514902.1:n.*1168-445_*1168-444insC | |
| ENST00000700267.1:c.956-445_956-444insC | ENSP00000514903.1:n.956-445_956-444insC | |
| ENST00000700268.1:c.956-445_956-444insC | ENSP00000514904.1:n.956-445_956-444insC | |
| ENST00000700269.1:c.956-445_956-444insC | ENSP00000514905.1:n.956-445_956-444insC | |
| ENST00000700271.1:c.943+4852_943+4853insC | ENSP00000514906.1:n.943+4852_943+4853insC | |
| ENST00000700272.1:c.*900-445_*900-444insC | ENSP00000514907.1:n.*900-445_*900-444insC | |
| ENST00000700273.1:c.944-445_944-444insC | ENSP00000514908.1:n.944-445_944-444insC | |
| ENST00000700302.1:c.956-445_956-444insC | ENSP00000514929.1:n.956-445_956-444insC | |
| ENST00000700303.1:c.*618-445_*618-444insC | ENSP00000514930.1:n.*618-445_*618-444insC | |
| ENST00000700304.1:c.*900-445_*900-444insC | ENSP00000514931.1:n.*900-445_*900-444insC | |
| ENST00000700305.1:c.*514-445_*514-444insC | ENSP00000514932.1:n.*514-445_*514-444insC | |
| ENST00000700306.1:c.956-445_956-444insC | ENSP00000514933.1:n.956-445_956-444insC | |
| ENST00000700307.1:c.857-445_857-444insC | ENSP00000514934.1:n.857-445_857-444insC | |
| ENST00000700308.1:c.*900-445_*900-444insC | ENSP00000514935.1:n.*900-445_*900-444insC | |
| ENST00000700309.1:c.*1045-445_*1045-444insC | ENSP00000514936.1:n.*1045-445_*1045-444insC | |
| ENST00000700310.1:c.937-445_937-444insC | ENSP00000514937.1:n.937-445_937-444insC | |
| ENST00000700311.1:c.956-445_956-444insC | ENSP00000514938.1:n.956-445_956-444insC | |
| ENST00000700312.1:c.707-445_707-444insC | ENSP00000514939.1:n.707-445_707-444insC | |
| ENST00000700313.1:c.944-445_944-444insC | ENSP00000514940.1:n.944-445_944-444insC | |
| ENST00000700314.1:c.*895-445_*895-444insC | ENSP00000514941.1:n.*895-445_*895-444insC | |
| ENST00000700315.1:c.*514-445_*514-444insC | ENSP00000514942.1:n.*514-445_*514-444insC | |
| ENST00000700316.1:c.*736-445_*736-444insC | ENSP00000514943.1:n.*736-445_*736-444insC | |
| ENST00000700317.1:c.956-445_956-444insC | ENSP00000514944.1:n.956-445_956-444insC | |
| ENST00000700318.1:c.*618-445_*618-444insC | ENSP00000514945.1:n.*618-445_*618-444insC | |
| ENST00000700319.1:c.*396-445_*396-444insC | ENSP00000514946.1:n.*396-445_*396-444insC | |
| ENST00000700320.1:c.983-445_983-444insC | ENSP00000514947.1:n.983-445_983-444insC | |
| ENST00000700321.1:c.956-445_956-444insC | ENSP00000514948.1:n.956-445_956-444insC | |
| ENST00000700322.1:c.944-445_944-444insC | ENSP00000514949.1:n.944-445_944-444insC | |
| ENST00000700323.1:c.956-445_956-444insC | ENSP00000514950.1:n.956-445_956-444insC | |
| ENST00000700324.1:c.944-445_944-444insC | ENSP00000514951.1:n.944-445_944-444insC | |
| ENST00000700375.1:c.956-445_956-444insC | ENSP00000514966.1:n.956-445_956-444insC | |
| ENST00000700377.1:c.*424-445_*424-444insC | ENSP00000514967.1:n.*424-445_*424-444insC | |
| ENST00000700378.1:c.956-445_956-444insC | ENSP00000514968.1:n.956-445_956-444insC | |
| ENST00000700379.1:n.1354-445_1354-444insC | ||
| ENST00000700389.1:c.944-445_944-444insC | ENSP00000514970.1:n.944-445_944-444insC | |
| ENST00000700390.1:n.2667-445_2667-444insC | ||
| ENST00000700391.1:n.167-445_167-444insC | ||
| ENST00000700404.1:n.1955-445_1955-444insC | ||
| ENST00000700435.1:n.1091-445_1091-444insC | ||
| ENST00000700436.1:c.1048-445_1048-444insC | ENSP00000514987.1:n.1048-445_1048-444insC | |
| ENST00000700437.1:c.707-445_707-444insC | ENSP00000514988.1:n.707-445_707-444insC | |
| ENST00000700468.1:c.845-445_845-444insC | ENSP00000515001.1:n.845-445_845-444insC | |
| ENST00000700469.1:c.944-445_944-444insC | ENSP00000515002.1:n.944-445_944-444insC | |
| ENST00000324501.10:c.956-445_956-444insC MANE Select | ENSP00000326366.5:n.956-445_956-444insC | |
| ENST00000324501.9:c.956-445_956-444insC | ENSP00000326366.5:n.956-445_956-444insC | |
| ENST00000357710.8:c.944-445_944-444insC | ENSP00000350342.4:n.944-445_944-444insC | |
| ENST00000394164.5:c.944-445_944-444insC | ENSP00000377719.1:n.944-445_944-444insC | |
| ENST00000406768.1:c.680-445_680-444insC | ENSP00000385948.1:n.680-445_680-444insC | |
| ENST00000553855.5:c.1048-445_1048-444insC | ENSP00000452242.1:n.1048-445_1048-444insC | |
| ENST00000554995.1:n.508-445_508-444insC | ||
| ENST00000555386.5:c.1036-445_1036-444insC | ENSP00000450845.1:n.1036-445_1036-444insC | |
| ENST00000555867.1:n.321-445_321-444insC | ||
| ENST00000557511.5:c.955+4852_955+4853insC | ENSP00000451429.1:n.955+4852_955+4853insC | |
| NM_000021.3:c.956-445_956-444insC | NP_000012.1:n.956-445_956-444insC | |
| NM_007318.2:c.944-445_944-444insC | NP_015557.2:n.944-445_944-444insC | |
| XM_005267864.1:c.956-445_956-444insC | XP_005267921.1:n.956-445_956-444insC | |
| XM_005267866.1:c.944-445_944-444insC | XP_005267923.1:n.944-445_944-444insC | |
| XM_011536971.1:c.956-445_956-444insC | XP_011535273.1:n.956-445_956-444insC | |
| XM_011536972.1:c.956-445_956-444insC | XP_011535274.1:n.956-445_956-444insC | |
| XM_011536973.1:c.944-445_944-444insC | XP_011535275.1:n.944-445_944-444insC | |
| XM_011536974.1:c.944-445_944-444insC | XP_011535276.1:n.944-445_944-444insC | |
| XM_005267864.3:c.956-445_956-444insC | XP_005267921.1:n.956-445_956-444insC | |
| XM_005267866.2:c.944-445_944-444insC | XP_005267923.1:n.944-445_944-444insC | |
| XM_011536972.2:c.956-445_956-444insC | XP_011535274.1:n.956-445_956-444insC | |
| XM_011536973.2:c.944-445_944-444insC | XP_011535275.1:n.944-445_944-444insC | |
| XM_011536974.2:c.944-445_944-444insC | XP_011535276.1:n.944-445_944-444insC | |
| NM_000021.4:c.956-445_956-444insC MANE Select | NP_000012.1:n.956-445_956-444insC | |
| NM_007318.3:c.944-445_944-444insC | NP_015557.2:n.944-445_944-444insC |