WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73206311_73206312delinsGA , CM000676.2:g.73206311_73206312delinsGA | GRCh38 |
| NC_000014.8:g.73673019_73673020delinsGA , CM000676.1:g.73673019_73673020delinsGA | GRCh37 |
| NC_000014.7:g.72742772_72742773delinsGA | NCBI36 |
| NG_007386.2:g.74841_74842delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553599.6:c.857-75_857-74delinsGA | ENSP00000452477.2:n.857-75_857-74delinsGA... | |
| ENST00000554131.6:c.869-75_869-74delinsGA | ENSP00000451915.2:n.869-75_869-74delinsGA... | |
| ENST00000554995.2:n.1619-75_1619-74delinsGA | ||
| ENST00000555386.6:c.857-75_857-74delinsGA | ENSP00000450845.1:n.857-75_857-74delinsGA... | |
| ENST00000556066.2:n.1295-75_1295-74delinsGA | ||
| ENST00000556951.6:c.857-75_857-74delinsGA | ENSP00000450551.2:n.857-75_857-74delinsGA... | |
| ENST00000557293.6:c.749-75_749-74delinsGA | ENSP00000451880.2:n.749-75_749-74delinsGA... | |
| ENST00000559361.6:c.*813-75_*813-74delinsGA | ENSP00000454156.1:n.*813-75_*813-74delins... | |
| ENST00000697912.1:c.857-75_857-74delinsGA | ENSP00000513477.1:n.857-75_857-74delinsGA... | |
| ENST00000697913.1:n.1123-75_1123-74delinsGA | ||
| ENST00000700265.1:c.857-75_857-74delinsGA | ENSP00000514901.1:n.857-75_857-74delinsGA... | |
| ENST00000700266.1:c.*1081-75_*1081-74delinsGA | ENSP00000514902.1:n.*1081-75_*1081-74deli... | |
| ENST00000700267.1:c.869-75_869-74delinsGA | ENSP00000514903.1:n.869-75_869-74delinsGA... | |
| ENST00000700268.1:c.869-75_869-74delinsGA | ENSP00000514904.1:n.869-75_869-74delinsGA... | |
| ENST00000700269.1:c.869-75_869-74delinsGA | ENSP00000514905.1:n.869-75_869-74delinsGA... | |
| ENST00000700270.1:n.1125-75_1125-74delinsGA | ||
| ENST00000700271.1:c.857-75_857-74delinsGA | ENSP00000514906.1:n.857-75_857-74delinsGA... | |
| ENST00000700272.1:c.*813-75_*813-74delinsGA | ENSP00000514907.1:n.*813-75_*813-74delins... | |
| ENST00000700273.1:c.857-75_857-74delinsGA | ENSP00000514908.1:n.857-75_857-74delinsGA... | |
| ENST00000700302.1:c.869-75_869-74delinsGA | ENSP00000514929.1:n.869-75_869-74delinsGA... | |
| ENST00000700303.1:c.*531-75_*531-74delinsGA | ENSP00000514930.1:n.*531-75_*531-74delins... | |
| ENST00000700304.1:c.*813-75_*813-74delinsGA | ENSP00000514931.1:n.*813-75_*813-74delins... | |
| ENST00000700305.1:c.*427-75_*427-74delinsGA | ENSP00000514932.1:n.*427-75_*427-74delins... | |
| ENST00000700306.1:c.869-75_869-74delinsGA | ENSP00000514933.1:n.869-75_869-74delinsGA... | |
| ENST00000700307.1:c.770-75_770-74delinsGA | ENSP00000514934.1:n.770-75_770-74delinsGA... | |
| ENST00000700308.1:c.*813-75_*813-74delinsGA | ENSP00000514935.1:n.*813-75_*813-74delins... | |
| ENST00000700309.1:c.*958-75_*958-74delinsGA | ENSP00000514936.1:n.*958-75_*958-74delins... | |
| ENST00000700310.1:c.758-75_758-74delinsGA | ENSP00000514937.1:n.758-75_758-74delinsGA... | |
| ENST00000700311.1:c.869-75_869-74delinsGA | ENSP00000514938.1:n.869-75_869-74delinsGA... | |
| ENST00000700312.1:c.620-75_620-74delinsGA | ENSP00000514939.1:n.620-75_620-74delinsGA... | |
| ENST00000700313.1:c.857-75_857-74delinsGA | ENSP00000514940.1:n.857-75_857-74delinsGA... | |
| ENST00000700314.1:c.*808-75_*808-74delinsGA | ENSP00000514941.1:n.*808-75_*808-74delins... | |
| ENST00000700315.1:c.*427-75_*427-74delinsGA | ENSP00000514942.1:n.*427-75_*427-74delins... | |
| ENST00000700316.1:c.*649-75_*649-74delinsGA | ENSP00000514943.1:n.*649-75_*649-74delins... | |
| ENST00000700317.1:c.869-75_869-74delinsGA | ENSP00000514944.1:n.869-75_869-74delinsGA... | |
| ENST00000700318.1:c.*531-75_*531-74delinsGA | ENSP00000514945.1:n.*531-75_*531-74delins... | |
| ENST00000700319.1:c.*309-75_*309-74delinsGA | ENSP00000514946.1:n.*309-75_*309-74delins... | |
| ENST00000700320.1:c.896-75_896-74delinsGA | ENSP00000514947.1:n.896-75_896-74delinsGA... | |
| ENST00000700321.1:c.869-75_869-74delinsGA | ENSP00000514948.1:n.869-75_869-74delinsGA... | |
| ENST00000700322.1:c.857-75_857-74delinsGA | ENSP00000514949.1:n.857-75_857-74delinsGA... | |
| ENST00000700323.1:c.869-75_869-74delinsGA | ENSP00000514950.1:n.869-75_869-74delinsGA... | |
| ENST00000700324.1:c.857-75_857-74delinsGA | ENSP00000514951.1:n.857-75_857-74delinsGA... | |
| ENST00000700375.1:c.869-75_869-74delinsGA | ENSP00000514966.1:n.869-75_869-74delinsGA... | |
| ENST00000700377.1:c.*337-75_*337-74delinsGA | ENSP00000514967.1:n.*337-75_*337-74delins... | |
| ENST00000700378.1:c.869-75_869-74delinsGA | ENSP00000514968.1:n.869-75_869-74delinsGA... | |
| ENST00000700379.1:n.1267-75_1267-74delinsGA | ||
| ENST00000700389.1:c.857-75_857-74delinsGA | ENSP00000514970.1:n.857-75_857-74delinsGA... | |
| ENST00000700390.1:n.2580-75_2580-74delinsGA | ||
| ENST00000700391.1:n.80-75_80-74delinsGA | ||
| ENST00000700404.1:n.1868-75_1868-74delinsGA | ||
| ENST00000700433.1:n.1120-75_1120-74delinsGA | ||
| ENST00000700434.1:n.1122-75_1122-74delinsGA | ||
| ENST00000700435.1:n.1004-75_1004-74delinsGA | ||
| ENST00000700436.1:c.869-75_869-74delinsGA | ENSP00000514987.1:n.869-75_869-74delinsGA... | |
| ENST00000700437.1:c.620-75_620-74delinsGA | ENSP00000514988.1:n.620-75_620-74delinsGA... | |
| ENST00000700467.1:n.1126-75_1126-74delinsGA | ||
| ENST00000700468.1:c.758-75_758-74delinsGA | ENSP00000515001.1:n.758-75_758-74delinsGA... | |
| ENST00000700469.1:c.857-75_857-74delinsGA | ENSP00000515002.1:n.857-75_857-74delinsGA... | |
| ENST00000324501.10:c.869-75_869-74delinsGA MANE Select | ENSP00000326366.5:n.869-75_869-74delinsGA... | |
| ENST00000324501.9:c.869-75_869-74delinsGA | ENSP00000326366.5:n.869-75_869-74delinsGA... | |
| ENST00000357710.8:c.857-75_857-74delinsGA | ENSP00000350342.4:n.857-75_857-74delinsGA... | |
| ENST00000394164.5:c.857-75_857-74delinsGA | ENSP00000377719.1:n.857-75_857-74delinsGA... | |
| ENST00000406768.1:c.593-75_593-74delinsGA | ENSP00000385948.1:n.593-75_593-74delinsGA... | |
| ENST00000553855.5:c.869-75_869-74delinsGA | ENSP00000452242.1:n.869-75_869-74delinsGA... | |
| ENST00000554995.1:n.421-75_421-74delinsGA | ||
| ENST00000555386.5:c.857-75_857-74delinsGA | ENSP00000450845.1:n.857-75_857-74delinsGA... | |
| ENST00000555867.1:n.159_160delinsGA | ||
| ENST00000557511.5:c.869-75_869-74delinsGA | ENSP00000451429.1:n.869-75_869-74delinsGA... | |
| NM_000021.3:c.869-75_869-74delinsGA | NP_000012.1:n.869-75_869-74delinsGA | |
| NM_007318.2:c.857-75_857-74delinsGA | NP_015557.2:n.857-75_857-74delinsGA | |
| XM_005267864.1:c.869-75_869-74delinsGA | XP_005267921.1:n.869-75_869-74delinsGA | |
| XM_005267866.1:c.857-75_857-74delinsGA | XP_005267923.1:n.857-75_857-74delinsGA | |
| XM_011536971.1:c.869-75_869-74delinsGA | XP_011535273.1:n.869-75_869-74delinsGA | |
| XM_011536972.1:c.869-75_869-74delinsGA | XP_011535274.1:n.869-75_869-74delinsGA | |
| XM_011536973.1:c.857-75_857-74delinsGA | XP_011535275.1:n.857-75_857-74delinsGA | |
| XM_011536974.1:c.857-75_857-74delinsGA | XP_011535276.1:n.857-75_857-74delinsGA | |
| XM_005267864.3:c.869-75_869-74delinsGA | XP_005267921.1:n.869-75_869-74delinsGA | |
| XM_005267866.2:c.857-75_857-74delinsGA | XP_005267923.1:n.857-75_857-74delinsGA | |
| XM_011536972.2:c.869-75_869-74delinsGA | XP_011535274.1:n.869-75_869-74delinsGA | |
| XM_011536973.2:c.857-75_857-74delinsGA | XP_011535275.1:n.857-75_857-74delinsGA | |
| XM_011536974.2:c.857-75_857-74delinsGA | XP_011535276.1:n.857-75_857-74delinsGA | |
| NM_000021.4:c.869-75_869-74delinsGA MANE Select | NP_000012.1:n.869-75_869-74delinsGA | |
| NM_007318.3:c.857-75_857-74delinsGA | NP_015557.2:n.857-75_857-74delinsGA |