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.73211339_73211340del , CM000676.2:g.73211339_73211340del | GRCh38 |
| NC_000014.8:g.73678047_73678048del , CM000676.1:g.73678047_73678048del | GRCh37 |
| NC_000014.7:g.72747800_72747801del | NCBI36 |
| NG_007386.2:g.79869_79870del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.944-430_944-429del | ENSP00000452477.2:n.944-430_944-429del | |
| ENST00000554131.6:c.956-430_956-429del | ENSP00000451915.2:n.956-430_956-429del | |
| ENST00000554995.2:n.1706-430_1706-429del | ||
| ENST00000555386.6:c.1036-430_1036-429del | ENSP00000450845.1:n.1036-430_1036-429del | |
| ENST00000556066.2:n.1382-430_1382-429del | ||
| ENST00000556951.6:c.944-430_944-429del | ENSP00000450551.2:n.944-430_944-429del | |
| ENST00000557293.6:c.836-430_836-429del | ENSP00000451880.2:n.836-430_836-429del | |
| ENST00000559361.6:c.*900-430_*900-429del | ENSP00000454156.1:n.*900-430_*900-429del | |
| ENST00000697912.1:c.944-430_944-429del | ENSP00000513477.1:n.944-430_944-429del | |
| ENST00000697913.1:n.6076_6077del | ||
| ENST00000700265.1:c.944-430_944-429del | ENSP00000514901.1:n.944-430_944-429del | |
| ENST00000700266.1:c.*1168-430_*1168-429del | ENSP00000514902.1:n.*1168-430_*1168-429del | |
| ENST00000700267.1:c.956-430_956-429del | ENSP00000514903.1:n.956-430_956-429del | |
| ENST00000700268.1:c.956-430_956-429del | ENSP00000514904.1:n.956-430_956-429del | |
| ENST00000700269.1:c.956-430_956-429del | ENSP00000514905.1:n.956-430_956-429del | |
| ENST00000700271.1:c.943+4867_943+4868del | ENSP00000514906.1:n.943+4867_943+4868del | |
| ENST00000700272.1:c.*900-430_*900-429del | ENSP00000514907.1:n.*900-430_*900-429del | |
| ENST00000700273.1:c.944-430_944-429del | ENSP00000514908.1:n.944-430_944-429del | |
| ENST00000700302.1:c.956-430_956-429del | ENSP00000514929.1:n.956-430_956-429del | |
| ENST00000700303.1:c.*618-430_*618-429del | ENSP00000514930.1:n.*618-430_*618-429del | |
| ENST00000700304.1:c.*900-430_*900-429del | ENSP00000514931.1:n.*900-430_*900-429del | |
| ENST00000700305.1:c.*514-430_*514-429del | ENSP00000514932.1:n.*514-430_*514-429del | |
| ENST00000700306.1:c.956-430_956-429del | ENSP00000514933.1:n.956-430_956-429del | |
| ENST00000700307.1:c.857-430_857-429del | ENSP00000514934.1:n.857-430_857-429del | |
| ENST00000700308.1:c.*900-430_*900-429del | ENSP00000514935.1:n.*900-430_*900-429del | |
| ENST00000700309.1:c.*1045-430_*1045-429del | ENSP00000514936.1:n.*1045-430_*1045-429del | |
| ENST00000700310.1:c.937-430_937-429del | ENSP00000514937.1:n.937-430_937-429del | |
| ENST00000700311.1:c.956-430_956-429del | ENSP00000514938.1:n.956-430_956-429del | |
| ENST00000700312.1:c.707-430_707-429del | ENSP00000514939.1:n.707-430_707-429del | |
| ENST00000700313.1:c.944-430_944-429del | ENSP00000514940.1:n.944-430_944-429del | |
| ENST00000700314.1:c.*895-430_*895-429del | ENSP00000514941.1:n.*895-430_*895-429del | |
| ENST00000700315.1:c.*514-430_*514-429del | ENSP00000514942.1:n.*514-430_*514-429del | |
| ENST00000700316.1:c.*736-430_*736-429del | ENSP00000514943.1:n.*736-430_*736-429del | |
| ENST00000700317.1:c.956-430_956-429del | ENSP00000514944.1:n.956-430_956-429del | |
| ENST00000700318.1:c.*618-430_*618-429del | ENSP00000514945.1:n.*618-430_*618-429del | |
| ENST00000700319.1:c.*396-430_*396-429del | ENSP00000514946.1:n.*396-430_*396-429del | |
| ENST00000700320.1:c.983-430_983-429del | ENSP00000514947.1:n.983-430_983-429del | |
| ENST00000700321.1:c.956-430_956-429del | ENSP00000514948.1:n.956-430_956-429del | |
| ENST00000700322.1:c.944-430_944-429del | ENSP00000514949.1:n.944-430_944-429del | |
| ENST00000700323.1:c.956-430_956-429del | ENSP00000514950.1:n.956-430_956-429del | |
| ENST00000700324.1:c.944-430_944-429del | ENSP00000514951.1:n.944-430_944-429del | |
| ENST00000700375.1:c.956-430_956-429del | ENSP00000514966.1:n.956-430_956-429del | |
| ENST00000700377.1:c.*424-430_*424-429del | ENSP00000514967.1:n.*424-430_*424-429del | |
| ENST00000700378.1:c.956-430_956-429del | ENSP00000514968.1:n.956-430_956-429del | |
| ENST00000700379.1:n.1354-430_1354-429del | ||
| ENST00000700389.1:c.944-430_944-429del | ENSP00000514970.1:n.944-430_944-429del | |
| ENST00000700390.1:n.2667-430_2667-429del | ||
| ENST00000700391.1:n.167-430_167-429del | ||
| ENST00000700404.1:n.1955-430_1955-429del | ||
| ENST00000700435.1:n.1091-430_1091-429del | ||
| ENST00000700436.1:c.1048-430_1048-429del | ENSP00000514987.1:n.1048-430_1048-429del | |
| ENST00000700437.1:c.707-430_707-429del | ENSP00000514988.1:n.707-430_707-429del | |
| ENST00000700468.1:c.845-430_845-429del | ENSP00000515001.1:n.845-430_845-429del | |
| ENST00000700469.1:c.944-430_944-429del | ENSP00000515002.1:n.944-430_944-429del | |
| ENST00000324501.10:c.956-430_956-429del MANE Select | ENSP00000326366.5:n.956-430_956-429del | |
| ENST00000324501.9:c.956-430_956-429del | ENSP00000326366.5:n.956-430_956-429del | |
| ENST00000357710.8:c.944-430_944-429del | ENSP00000350342.4:n.944-430_944-429del | |
| ENST00000394164.5:c.944-430_944-429del | ENSP00000377719.1:n.944-430_944-429del | |
| ENST00000406768.1:c.680-430_680-429del | ENSP00000385948.1:n.680-430_680-429del | |
| ENST00000553855.5:c.1048-430_1048-429del | ENSP00000452242.1:n.1048-430_1048-429del | |
| ENST00000554995.1:n.508-430_508-429del | ||
| ENST00000555386.5:c.1036-430_1036-429del | ENSP00000450845.1:n.1036-430_1036-429del | |
| ENST00000555867.1:n.321-430_321-429del | ||
| ENST00000557511.5:c.955+4867_955+4868del | ENSP00000451429.1:n.955+4867_955+4868del | |
| NM_000021.3:c.956-430_956-429del | NP_000012.1:n.956-430_956-429del | |
| NM_007318.2:c.944-430_944-429del | NP_015557.2:n.944-430_944-429del | |
| XM_005267864.1:c.956-430_956-429del | XP_005267921.1:n.956-430_956-429del | |
| XM_005267866.1:c.944-430_944-429del | XP_005267923.1:n.944-430_944-429del | |
| XM_011536971.1:c.956-430_956-429del | XP_011535273.1:n.956-430_956-429del | |
| XM_011536972.1:c.956-430_956-429del | XP_011535274.1:n.956-430_956-429del | |
| XM_011536973.1:c.944-430_944-429del | XP_011535275.1:n.944-430_944-429del | |
| XM_011536974.1:c.944-430_944-429del | XP_011535276.1:n.944-430_944-429del | |
| XM_005267864.3:c.956-430_956-429del | XP_005267921.1:n.956-430_956-429del | |
| XM_005267866.2:c.944-430_944-429del | XP_005267923.1:n.944-430_944-429del | |
| XM_011536972.2:c.956-430_956-429del | XP_011535274.1:n.956-430_956-429del | |
| XM_011536973.2:c.944-430_944-429del | XP_011535275.1:n.944-430_944-429del | |
| XM_011536974.2:c.944-430_944-429del | XP_011535276.1:n.944-430_944-429del | |
| NM_000021.4:c.956-430_956-429del MANE Select | NP_000012.1:n.956-430_956-429del | |
| NM_007318.3:c.944-430_944-429del | NP_015557.2:n.944-430_944-429del |