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.
Linked Data
gnomAD v4:
14-73186715-TGTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73186719_73186721del , CM000676.2:g.73186719_73186721del | GRCh38 |
| NC_000014.8:g.73653427_73653429del , CM000676.1:g.73653427_73653429del | GRCh37 |
| NC_000014.7:g.72723180_72723182del | NCBI36 |
| NG_007386.2:g.55249_55251del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553599.6:c.469-134_469-132del | ENSP00000452477.2:n.469-134_469-132del | |
| ENST00000554131.6:c.481-134_481-132del | ENSP00000451915.2:n.481-134_481-132del | |
| ENST00000555386.6:c.469-134_469-132del | ENSP00000450845.1:n.469-134_469-132del | |
| ENST00000556066.2:n.907-134_907-132del | ||
| ENST00000556951.6:c.469-134_469-132del | ENSP00000450551.2:n.469-134_469-132del | |
| ENST00000557293.6:c.481-134_481-132del | ENSP00000451880.2:n.481-134_481-132del | |
| ENST00000559361.6:c.*425-134_*425-132del | ENSP00000454156.1:n.*425-134_*425-132del | |
| ENST00000697912.1:c.469-134_469-132del | ENSP00000513477.1:n.469-134_469-132del | |
| ENST00000697913.1:n.735-134_735-132del | ||
| ENST00000700265.1:c.469-134_469-132del | ENSP00000514901.1:n.469-134_469-132del | |
| ENST00000700266.1:c.*693-134_*693-132del | ENSP00000514902.1:n.*693-134_*693-132del | |
| ENST00000700267.1:c.481-134_481-132del | ENSP00000514903.1:n.481-134_481-132del | |
| ENST00000700268.1:c.481-134_481-132del | ENSP00000514904.1:n.481-134_481-132del | |
| ENST00000700269.1:c.481-134_481-132del | ENSP00000514905.1:n.481-134_481-132del | |
| ENST00000700270.1:n.737-134_737-132del | ||
| ENST00000700271.1:c.469-134_469-132del | ENSP00000514906.1:n.469-134_469-132del | |
| ENST00000700272.1:c.*425-134_*425-132del | ENSP00000514907.1:n.*425-134_*425-132del | |
| ENST00000700273.1:c.469-134_469-132del | ENSP00000514908.1:n.469-134_469-132del | |
| ENST00000700302.1:c.481-134_481-132del | ENSP00000514929.1:n.481-134_481-132del | |
| ENST00000700303.1:c.*143-134_*143-132del | ENSP00000514930.1:n.*143-134_*143-132del | |
| ENST00000700304.1:c.*425-134_*425-132del | ENSP00000514931.1:n.*425-134_*425-132del | |
| ENST00000700305.1:c.*39-134_*39-132del | ENSP00000514932.1:n.*39-134_*39-132del | |
| ENST00000700306.1:c.481-134_481-132del | ENSP00000514933.1:n.481-134_481-132del | |
| ENST00000700307.1:c.481-134_481-132del | ENSP00000514934.1:n.481-134_481-132del | |
| ENST00000700308.1:c.*425-134_*425-132del | ENSP00000514935.1:n.*425-134_*425-132del | |
| ENST00000700309.1:c.*570-134_*570-132del | ENSP00000514936.1:n.*570-134_*570-132del | |
| ENST00000700310.1:c.469-134_469-132del | ENSP00000514937.1:n.469-134_469-132del | |
| ENST00000700311.1:c.481-134_481-132del | ENSP00000514938.1:n.481-134_481-132del | |
| ENST00000700312.1:c.232-134_232-132del | ENSP00000514939.1:n.232-134_232-132del | |
| ENST00000700313.1:c.469-134_469-132del | ENSP00000514940.1:n.469-134_469-132del | |
| ENST00000700314.1:c.*420-134_*420-132del | ENSP00000514941.1:n.*420-134_*420-132del | |
| ENST00000700315.1:c.*39-134_*39-132del | ENSP00000514942.1:n.*39-134_*39-132del | |
| ENST00000700316.1:c.*261-134_*261-132del | ENSP00000514943.1:n.*261-134_*261-132del | |
| ENST00000700317.1:c.481-134_481-132del | ENSP00000514944.1:n.481-134_481-132del | |
| ENST00000700318.1:c.*143-134_*143-132del | ENSP00000514945.1:n.*143-134_*143-132del | |
| ENST00000700319.1:c.481-5925_481-5923del | ENSP00000514946.1:n.481-5925_481-5923del | |
| ENST00000700320.1:c.481-134_481-132del | ENSP00000514947.1:n.481-134_481-132del | |
| ENST00000700321.1:c.481-134_481-132del | ENSP00000514948.1:n.481-134_481-132del | |
| ENST00000700322.1:c.469-134_469-132del | ENSP00000514949.1:n.469-134_469-132del | |
| ENST00000700323.1:c.481-134_481-132del | ENSP00000514950.1:n.481-134_481-132del | |
| ENST00000700324.1:c.469-134_469-132del | ENSP00000514951.1:n.469-134_469-132del | |
| ENST00000700375.1:c.481-134_481-132del | ENSP00000514966.1:n.481-134_481-132del | |
| ENST00000700376.1:n.1065-134_1065-132del | ||
| ENST00000700377.1:c.481-134_481-132del | ENSP00000514967.1:n.481-134_481-132del | |
| ENST00000700378.1:c.481-134_481-132del | ENSP00000514968.1:n.481-134_481-132del | |
| ENST00000700379.1:n.879-134_879-132del | ||
| ENST00000700388.1:n.728-134_728-132del | ||
| ENST00000700389.1:c.469-134_469-132del | ENSP00000514970.1:n.469-134_469-132del | |
| ENST00000700390.1:n.2192-134_2192-132del | ||
| ENST00000700404.1:n.1364-134_1364-132del | ||
| ENST00000700432.1:n.838-134_838-132del | ||
| ENST00000700433.1:n.616-134_616-132del | ||
| ENST00000700434.1:n.734-134_734-132del | ||
| ENST00000700435.1:n.616-134_616-132del | ||
| ENST00000700436.1:c.481-134_481-132del | ENSP00000514987.1:n.481-134_481-132del | |
| ENST00000700437.1:c.232-134_232-132del | ENSP00000514988.1:n.232-134_232-132del | |
| ENST00000700467.1:n.738-134_738-132del | ||
| ENST00000700468.1:c.469-134_469-132del | ENSP00000515001.1:n.469-134_469-132del | |
| ENST00000700469.1:c.469-134_469-132del | ENSP00000515002.1:n.469-134_469-132del | |
| ENST00000324501.10:c.481-134_481-132del MANE Select | ENSP00000326366.5:n.481-134_481-132del | |
| ENST00000324501.9:c.481-134_481-132del | ENSP00000326366.5:n.481-134_481-132del | |
| ENST00000357710.8:c.469-134_469-132del | ENSP00000350342.4:n.469-134_469-132del | |
| ENST00000394164.5:c.469-134_469-132del | ENSP00000377719.1:n.469-134_469-132del | |
| ENST00000406768.1:c.205-134_205-132del | ENSP00000385948.1:n.205-134_205-132del | |
| ENST00000553855.5:c.481-134_481-132del | ENSP00000452242.1:n.481-134_481-132del | |
| ENST00000555386.5:c.469-134_469-132del | ENSP00000450845.1:n.469-134_469-132del | |
| ENST00000557511.5:c.481-134_481-132del | ENSP00000451429.1:n.481-134_481-132del | |
| NM_000021.3:c.481-134_481-132del | NP_000012.1:n.481-134_481-132del | |
| NM_007318.2:c.469-134_469-132del | NP_015557.2:n.469-134_469-132del | |
| XM_005267864.1:c.481-134_481-132del | XP_005267921.1:n.481-134_481-132del | |
| XM_005267866.1:c.469-134_469-132del | XP_005267923.1:n.469-134_469-132del | |
| XM_011536971.1:c.481-134_481-132del | XP_011535273.1:n.481-134_481-132del | |
| XM_011536972.1:c.481-134_481-132del | XP_011535274.1:n.481-134_481-132del | |
| XM_011536973.1:c.469-134_469-132del | XP_011535275.1:n.469-134_469-132del | |
| XM_011536974.1:c.469-134_469-132del | XP_011535276.1:n.469-134_469-132del | |
| XM_005267864.3:c.481-134_481-132del | XP_005267921.1:n.481-134_481-132del | |
| XM_005267866.2:c.469-134_469-132del | XP_005267923.1:n.469-134_469-132del | |
| XM_011536972.2:c.481-134_481-132del | XP_011535274.1:n.481-134_481-132del | |
| XM_011536973.2:c.469-134_469-132del | XP_011535275.1:n.469-134_469-132del | |
| XM_011536974.2:c.469-134_469-132del | XP_011535276.1:n.469-134_469-132del | |
| NM_000021.4:c.481-134_481-132del MANE Select | NP_000012.1:n.481-134_481-132del | |
| NM_007318.3:c.469-134_469-132del | NP_015557.2:n.469-134_469-132del |