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_000022.11:g.31869772_31869774delinsCGG , CM000684.2:g.31869772_31869774delinsCGG | GRCh38 |
| NC_000022.10:g.32265758_32265760delinsCGG , CM000684.1:g.32265758_32265760delinsCGG | GRCh37 |
| NC_000022.9:g.30595758_30595760delinsCGG | NCBI36 |
| NG_034067.1:g.120822_120824delinsCGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382112.8:c.3331-818_3331-816delinsCGG | ENSP00000371546.4:n.3331-818_3331-816deli... | |
| ENST00000400246.7:c.3031-818_3031-816delinsCGG | ENSP00000383105.3:n.3031-818_3031-816deli... | |
| ENST00000400248.7:c.3238-818_3238-816delinsCGG | ENSP00000383107.1:n.3238-818_3238-816deli... | |
| ENST00000400249.7:c.3265-818_3265-816delinsCGG | ENSP00000383108.3:n.3265-818_3265-816deli... | |
| ENST00000433147.2:c.3247-818_3247-816delinsCGG | ENSP00000410544.2:n.3247-818_3247-816deli... | |
| ENST00000448753.6:c.1387-818_1387-816delinsCGG | ENSP00000402173.1:n.1387-818_1387-816deli... | |
| ENST00000535622.6:c.3031-818_3031-816delinsCGG | ENSP00000440210.1:n.3031-818_3031-816deli... | |
| ENST00000642684.1:c.*2958-818_*2958-816delinsCGG | ENSP00000494554.1:n.*2958-818_*2958-816de... | |
| ENST00000642696.1:c.3238-818_3238-816delinsCGG | ENSP00000495917.1:n.3238-818_3238-816deli... | |
| ENST00000642771.1:c.*1342-818_*1342-816delinsCGG | ENSP00000496278.1:n.*1342-818_*1342-816de... | |
| ENST00000642956.1:n.71-818_71-816delinsCGG | ||
| ENST00000643021.1:n.290-818_290-816delinsCGG | ||
| ENST00000643097.1:n.262-818_262-816delinsCGG | ||
| ENST00000643395.1:c.3031-818_3031-816delinsCGG | ENSP00000496630.1:n.3031-818_3031-816deli... | |
| ENST00000643751.2:c.3331-818_3331-816delinsCGG | ENSP00000495496.1:n.3331-818_3331-816deli... | |
| ENST00000644162.1:c.*1959-818_*1959-816delinsCGG | ENSP00000495371.1:n.*1959-818_*1959-816de... | |
| ENST00000644331.1:c.3265-818_3265-816delinsCGG | ENSP00000494406.1:n.3265-818_3265-816deli... | |
| ENST00000644690.1:n.187-818_187-816delinsCGG | ||
| ENST00000645407.1:c.3289-818_3289-816delinsCGG | ENSP00000496252.1:n.3289-818_3289-816deli... | |
| ENST00000645494.1:c.*1315-818_*1315-816delinsCGG | ENSP00000495338.1:n.*1315-818_*1315-816de... | |
| ENST00000645547.1:c.64-818_64-816delinsCGG | ENSP00000496023.1:n.64-818_64-816delinsCG... | |
| ENST00000645560.1:c.3097-818_3097-816delinsCGG | ENSP00000495544.1:n.3097-818_3097-816deli... | |
| ENST00000645711.1:c.3304-818_3304-816delinsCGG | ENSP00000493489.1:n.3304-818_3304-816deli... | |
| ENST00000645755.1:c.*2137-818_*2137-816delinsCGG | ENSP00000495873.1:n.*2137-818_*2137-816de... | |
| ENST00000645893.1:n.2188-818_2188-816delinsCGG | ||
| ENST00000646135.1:n.803-818_803-816delinsCGG | ||
| ENST00000646465.1:c.3097-818_3097-816delinsCGG | ENSP00000495655.1:n.3097-818_3097-816deli... | |
| ENST00000646515.1:c.3331-818_3331-816delinsCGG | ENSP00000494700.1:n.3331-818_3331-816deli... | |
| ENST00000646701.1:c.1786+50547_1786+50549delinsCGG | ENSP00000496158.1:n.1786+50547_1786+50549... | |
| ENST00000646830.1:n.196-818_196-816delinsCGG | ||
| ENST00000646969.1:c.3097-818_3097-816delinsCGG | ENSP00000496724.1:n.3097-818_3097-816deli... | |
| ENST00000646998.1:c.3265-818_3265-816delinsCGG | ENSP00000494662.1:n.3265-818_3265-816deli... | |
| ENST00000647343.1:c.3247-818_3247-816delinsCGG | ENSP00000494879.1:n.3247-818_3247-816deli... | |
| ENST00000651528.2:c.3331-818_3331-816delinsCGG MANE Select | ENSP00000498382.1:n.3331-818_3331-816deli... | |
| ENST00000382111.6:c.3331-818_3331-816delinsCGG | ENSP00000371545.2:n.3331-818_3331-816deli... | |
| ENST00000382112.7:c.3304-818_3304-816delinsCGG | ENSP00000371546.3:n.3304-818_3304-816deli... | |
| ENST00000400246.5:c.3331-818_3331-816delinsCGG | ENSP00000383105.2:n.3331-818_3331-816deli... | |
| ENST00000400248.6:c.3238-818_3238-816delinsCGG | ENSP00000383107.1:n.3238-818_3238-816deli... | |
| ENST00000400249.6:c.3238-818_3238-816delinsCGG | ENSP00000383108.2:n.3238-818_3238-816deli... | |
| ENST00000433147.1:c.1457-818_1457-816delinsCGG | ||
| ENST00000448753.5:c.1387-818_1387-816delinsCGG | ENSP00000402173.1:n.1387-818_1387-816deli... | |
| ENST00000494060.1:n.139-818_139-816delinsCGG | ||
| ENST00000535622.5:c.3031-818_3031-816delinsCGG | ENSP00000440210.1:n.3031-818_3031-816deli... | |
| NM_001136029.2:c.3304-818_3304-816delinsCGG | NP_001129501.1:n.3304-818_3304-816delinsC... | |
| NM_001242896.1:c.3331-818_3331-816delinsCGG | NP_001229825.1:n.3331-818_3331-816delinsC... | |
| NM_001242897.1:c.3031-818_3031-816delinsCGG | NP_001229826.1:n.3031-818_3031-816delinsC... | |
| NM_014662.4:c.3238-818_3238-816delinsCGG | NP_055477.1:n.3238-818_3238-816delinsCGG | |
| NR_110988.1:n.3233-818_3233-816delinsCGG | ||
| XM_005261862.1:c.3331-818_3331-816delinsCGG | XP_005261919.1:n.3331-818_3331-816delinsC... | |
| XM_011530557.1:c.3304-818_3304-816delinsCGG | XP_011528859.1:n.3304-818_3304-816delinsC... | |
| XM_011530558.1:c.3265-818_3265-816delinsCGG | XP_011528860.1:n.3265-818_3265-816delinsC... | |
| XM_011530559.1:c.3238-818_3238-816delinsCGG | XP_011528861.1:n.3238-818_3238-816delinsC... | |
| XM_011530560.1:c.3097-818_3097-816delinsCGG | XP_011528862.1:n.3097-818_3097-816delinsC... | |
| XM_011530561.1:c.3070-818_3070-816delinsCGG | XP_011528863.1:n.3070-818_3070-816delinsC... | |
| XM_011530562.1:c.3331-818_3331-816delinsCGG | XP_011528864.1:n.3331-818_3331-816delinsC... | |
| XM_011530563.1:c.3031-818_3031-816delinsCGG | XP_011528865.1:n.3031-818_3031-816delinsC... | |
| XM_011530564.1:c.3331-818_3331-816delinsCGG | XP_011528866.1:n.3331-818_3331-816delinsC... | |
| XM_011530565.1:c.3331-818_3331-816delinsCGG | XP_011528867.1:n.3331-818_3331-816delinsC... | |
| XM_011530566.1:c.3331-818_3331-816delinsCGG | XP_011528868.1:n.3331-818_3331-816delinsC... | |
| XM_011530567.1:c.3331-818_3331-816delinsCGG | XP_011528869.1:n.3331-818_3331-816delinsC... | |
| XM_011530568.1:c.3265-818_3265-816delinsCGG | XP_011528870.1:n.3265-818_3265-816delinsC... | |
| XM_011530569.1:c.1225-818_1225-816delinsCGG | XP_011528871.1:n.1225-818_1225-816delinsC... | |
| XR_937972.1:n.3528-818_3528-816delinsCGG | ||
| XR_937973.1:n.3294-818_3294-816delinsCGG | ||
| NM_001136029.3:c.3304-818_3304-816delinsCGG | NP_001129501.1:n.3304-818_3304-816delinsC... | |
| NM_001242896.2:c.3331-818_3331-816delinsCGG | NP_001229825.1:n.3331-818_3331-816delinsC... | |
| NM_001363852.1:c.3265-818_3265-816delinsCGG | NP_001350781.1:n.3265-818_3265-816delinsC... | |
| NM_001363854.1:c.3097-818_3097-816delinsCGG | NP_001350783.1:n.3097-818_3097-816delinsC... | |
| NM_001364318.1:c.3331-818_3331-816delinsCGG | NP_001351247.1:n.3331-818_3331-816delinsC... | |
| NM_001364319.1:c.3097-818_3097-816delinsCGG | NP_001351248.1:n.3097-818_3097-816delinsC... | |
| NM_001364320.1:c.3265-818_3265-816delinsCGG | NP_001351249.1:n.3265-818_3265-816delinsC... | |
| NM_014662.5:c.3238-818_3238-816delinsCGG | NP_055477.1:n.3238-818_3238-816delinsCGG | |
| NR_110988.2:n.3237-818_3237-816delinsCGG | ||
| NR_146296.1:n.3437-818_3437-816delinsCGG | ||
| NR_157125.1:n.3228-818_3228-816delinsCGG | ||
| NR_157126.1:n.3420-818_3420-816delinsCGG | ||
| NR_157128.1:n.3471-818_3471-816delinsCGG | ||
| XM_011530557.2:c.3304-818_3304-816delinsCGG | XP_011528859.1:n.3304-818_3304-816delinsC... | |
| XM_011530559.2:c.3238-818_3238-816delinsCGG | XP_011528861.1:n.3238-818_3238-816delinsC... | |
| XM_011530561.2:c.3070-818_3070-816delinsCGG | XP_011528863.1:n.3070-818_3070-816delinsC... | |
| XM_011530562.2:c.3331-818_3331-816delinsCGG | XP_011528864.1:n.3331-818_3331-816delinsC... | |
| XM_011530563.2:c.3031-818_3031-816delinsCGG | XP_011528865.1:n.3031-818_3031-816delinsC... | |
| XM_011530565.2:c.3331-818_3331-816delinsCGG | XP_011528867.1:n.3331-818_3331-816delinsC... | |
| XM_011530568.2:c.3265-818_3265-816delinsCGG | XP_011528870.1:n.3265-818_3265-816delinsC... | |
| XM_011530569.2:c.1225-818_1225-816delinsCGG | XP_011528871.1:n.1225-818_1225-816delinsC... | |
| XM_024452305.1:c.1198-818_1198-816delinsCGG | XP_024308073.1:n.1198-818_1198-816delinsC... | |
| XR_001755389.1:n.3540-818_3540-816delinsCGG | ||
| XR_001755390.1:n.3540-818_3540-816delinsCGG | ||
| XR_937973.2:n.3306-818_3306-816delinsCGG | ||
| NM_001242896.3:c.3331-818_3331-816delinsCGG MANE Select | NP_001229825.1:n.3331-818_3331-816delinsC... | |
| NM_001242897.2:c.3031-818_3031-816delinsCGG | NP_001229826.1:n.3031-818_3031-816delinsC... | |
| NM_001363852.2:c.3265-818_3265-816delinsCGG | NP_001350781.1:n.3265-818_3265-816delinsC... | |
| NM_001363854.2:c.3097-818_3097-816delinsCGG | NP_001350783.1:n.3097-818_3097-816delinsC... | |
| NM_001369901.1:c.3247-818_3247-816delinsCGG | NP_001356830.1:n.3247-818_3247-816delinsC... | |
| NM_001369902.1:c.3247-818_3247-816delinsCGG | NP_001356831.1:n.3247-818_3247-816delinsC... | |
| NM_001369903.1:c.3238-818_3238-816delinsCGG | NP_001356832.1:n.3238-818_3238-816delinsC... | |
| NR_146296.2:n.3420-818_3420-816delinsCGG | ||
| NM_001136029.4:c.3304-818_3304-816delinsCGG | NP_001129501.1:n.3304-818_3304-816delinsC... | |
| NM_001364318.2:c.3331-818_3331-816delinsCGG | NP_001351247.1:n.3331-818_3331-816delinsC... | |
| NM_001364319.2:c.3097-818_3097-816delinsCGG | NP_001351248.1:n.3097-818_3097-816delinsC... | |
| NM_001364320.2:c.3265-818_3265-816delinsCGG | NP_001351249.1:n.3265-818_3265-816delinsC... | |
| NM_014662.6:c.3238-818_3238-816delinsCGG | NP_055477.1:n.3238-818_3238-816delinsCGG | |
| NR_157125.2:n.3228-818_3228-816delinsCGG | ||
| NR_157126.2:n.3420-818_3420-816delinsCGG |