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.
Linked Data
dbSNP Id:
rs2092790978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31869778_31869779insGGGG , CM000684.2:g.31869778_31869779insGGGG | GRCh38 |
| NC_000022.10:g.32265764_32265765insGGGG , CM000684.1:g.32265764_32265765insGGGG | GRCh37 |
| NC_000022.9:g.30595764_30595765insGGGG | NCBI36 |
| NG_034067.1:g.120828_120829insGGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382112.8:c.3331-812_3331-811insGGGG | ENSP00000371546.4:n.3331-812_3331-811insG... | |
| ENST00000400246.7:c.3031-812_3031-811insGGGG | ENSP00000383105.3:n.3031-812_3031-811insG... | |
| ENST00000400248.7:c.3238-812_3238-811insGGGG | ENSP00000383107.1:n.3238-812_3238-811insG... | |
| ENST00000400249.7:c.3265-812_3265-811insGGGG | ENSP00000383108.3:n.3265-812_3265-811insG... | |
| ENST00000433147.2:c.3247-812_3247-811insGGGG | ENSP00000410544.2:n.3247-812_3247-811insG... | |
| ENST00000448753.6:c.1387-812_1387-811insGGGG | ENSP00000402173.1:n.1387-812_1387-811insG... | |
| ENST00000535622.6:c.3031-812_3031-811insGGGG | ENSP00000440210.1:n.3031-812_3031-811insG... | |
| ENST00000642684.1:c.*2958-812_*2958-811insGGGG | ENSP00000494554.1:n.*2958-812_*2958-811in... | |
| ENST00000642696.1:c.3238-812_3238-811insGGGG | ENSP00000495917.1:n.3238-812_3238-811insG... | |
| ENST00000642771.1:c.*1342-812_*1342-811insGGGG | ENSP00000496278.1:n.*1342-812_*1342-811in... | |
| ENST00000642956.1:n.71-812_71-811insGGGG | ||
| ENST00000643021.1:n.290-812_290-811insGGGG | ||
| ENST00000643097.1:n.262-812_262-811insGGGG | ||
| ENST00000643395.1:c.3031-812_3031-811insGGGG | ENSP00000496630.1:n.3031-812_3031-811insG... | |
| ENST00000643751.2:c.3331-812_3331-811insGGGG | ENSP00000495496.1:n.3331-812_3331-811insG... | |
| ENST00000644162.1:c.*1959-812_*1959-811insGGGG | ENSP00000495371.1:n.*1959-812_*1959-811in... | |
| ENST00000644331.1:c.3265-812_3265-811insGGGG | ENSP00000494406.1:n.3265-812_3265-811insG... | |
| ENST00000644690.1:n.187-812_187-811insGGGG | ||
| ENST00000645407.1:c.3289-812_3289-811insGGGG | ENSP00000496252.1:n.3289-812_3289-811insG... | |
| ENST00000645494.1:c.*1315-812_*1315-811insGGGG | ENSP00000495338.1:n.*1315-812_*1315-811in... | |
| ENST00000645547.1:c.64-812_64-811insGGGG | ENSP00000496023.1:n.64-812_64-811insGGGG | |
| ENST00000645560.1:c.3097-812_3097-811insGGGG | ENSP00000495544.1:n.3097-812_3097-811insG... | |
| ENST00000645711.1:c.3304-812_3304-811insGGGG | ENSP00000493489.1:n.3304-812_3304-811insG... | |
| ENST00000645755.1:c.*2137-812_*2137-811insGGGG | ENSP00000495873.1:n.*2137-812_*2137-811in... | |
| ENST00000645893.1:n.2188-812_2188-811insGGGG | ||
| ENST00000646135.1:n.803-812_803-811insGGGG | ||
| ENST00000646465.1:c.3097-812_3097-811insGGGG | ENSP00000495655.1:n.3097-812_3097-811insG... | |
| ENST00000646515.1:c.3331-812_3331-811insGGGG | ENSP00000494700.1:n.3331-812_3331-811insG... | |
| ENST00000646701.1:c.1786+50553_1786+50554insGGGG | ENSP00000496158.1:n.1786+50553_1786+50554... | |
| ENST00000646830.1:n.196-812_196-811insGGGG | ||
| ENST00000646969.1:c.3097-812_3097-811insGGGG | ENSP00000496724.1:n.3097-812_3097-811insG... | |
| ENST00000646998.1:c.3265-812_3265-811insGGGG | ENSP00000494662.1:n.3265-812_3265-811insG... | |
| ENST00000647343.1:c.3247-812_3247-811insGGGG | ENSP00000494879.1:n.3247-812_3247-811insG... | |
| ENST00000651528.2:c.3331-812_3331-811insGGGG MANE Select | ENSP00000498382.1:n.3331-812_3331-811insG... | |
| ENST00000382111.6:c.3331-812_3331-811insGGGG | ENSP00000371545.2:n.3331-812_3331-811insG... | |
| ENST00000382112.7:c.3304-812_3304-811insGGGG | ENSP00000371546.3:n.3304-812_3304-811insG... | |
| ENST00000400246.5:c.3331-812_3331-811insGGGG | ENSP00000383105.2:n.3331-812_3331-811insG... | |
| ENST00000400248.6:c.3238-812_3238-811insGGGG | ENSP00000383107.1:n.3238-812_3238-811insG... | |
| ENST00000400249.6:c.3238-812_3238-811insGGGG | ENSP00000383108.2:n.3238-812_3238-811insG... | |
| ENST00000433147.1:c.1457-812_1457-811insGGGG | ||
| ENST00000448753.5:c.1387-812_1387-811insGGGG | ENSP00000402173.1:n.1387-812_1387-811insG... | |
| ENST00000494060.1:n.139-812_139-811insGGGG | ||
| ENST00000535622.5:c.3031-812_3031-811insGGGG | ENSP00000440210.1:n.3031-812_3031-811insG... | |
| NM_001136029.2:c.3304-812_3304-811insGGGG | NP_001129501.1:n.3304-812_3304-811insGGGG... | |
| NM_001242896.1:c.3331-812_3331-811insGGGG | NP_001229825.1:n.3331-812_3331-811insGGGG... | |
| NM_001242897.1:c.3031-812_3031-811insGGGG | NP_001229826.1:n.3031-812_3031-811insGGGG... | |
| NM_014662.4:c.3238-812_3238-811insGGGG | NP_055477.1:n.3238-812_3238-811insGGGG | |
| NR_110988.1:n.3233-812_3233-811insGGGG | ||
| XM_005261862.1:c.3331-812_3331-811insGGGG | XP_005261919.1:n.3331-812_3331-811insGGGG... | |
| XM_011530557.1:c.3304-812_3304-811insGGGG | XP_011528859.1:n.3304-812_3304-811insGGGG... | |
| XM_011530558.1:c.3265-812_3265-811insGGGG | XP_011528860.1:n.3265-812_3265-811insGGGG... | |
| XM_011530559.1:c.3238-812_3238-811insGGGG | XP_011528861.1:n.3238-812_3238-811insGGGG... | |
| XM_011530560.1:c.3097-812_3097-811insGGGG | XP_011528862.1:n.3097-812_3097-811insGGGG... | |
| XM_011530561.1:c.3070-812_3070-811insGGGG | XP_011528863.1:n.3070-812_3070-811insGGGG... | |
| XM_011530562.1:c.3331-812_3331-811insGGGG | XP_011528864.1:n.3331-812_3331-811insGGGG... | |
| XM_011530563.1:c.3031-812_3031-811insGGGG | XP_011528865.1:n.3031-812_3031-811insGGGG... | |
| XM_011530564.1:c.3331-812_3331-811insGGGG | XP_011528866.1:n.3331-812_3331-811insGGGG... | |
| XM_011530565.1:c.3331-812_3331-811insGGGG | XP_011528867.1:n.3331-812_3331-811insGGGG... | |
| XM_011530566.1:c.3331-812_3331-811insGGGG | XP_011528868.1:n.3331-812_3331-811insGGGG... | |
| XM_011530567.1:c.3331-812_3331-811insGGGG | XP_011528869.1:n.3331-812_3331-811insGGGG... | |
| XM_011530568.1:c.3265-812_3265-811insGGGG | XP_011528870.1:n.3265-812_3265-811insGGGG... | |
| XM_011530569.1:c.1225-812_1225-811insGGGG | XP_011528871.1:n.1225-812_1225-811insGGGG... | |
| XR_937972.1:n.3528-812_3528-811insGGGG | ||
| XR_937973.1:n.3294-812_3294-811insGGGG | ||
| NM_001136029.3:c.3304-812_3304-811insGGGG | NP_001129501.1:n.3304-812_3304-811insGGGG... | |
| NM_001242896.2:c.3331-812_3331-811insGGGG | NP_001229825.1:n.3331-812_3331-811insGGGG... | |
| NM_001363852.1:c.3265-812_3265-811insGGGG | NP_001350781.1:n.3265-812_3265-811insGGGG... | |
| NM_001363854.1:c.3097-812_3097-811insGGGG | NP_001350783.1:n.3097-812_3097-811insGGGG... | |
| NM_001364318.1:c.3331-812_3331-811insGGGG | NP_001351247.1:n.3331-812_3331-811insGGGG... | |
| NM_001364319.1:c.3097-812_3097-811insGGGG | NP_001351248.1:n.3097-812_3097-811insGGGG... | |
| NM_001364320.1:c.3265-812_3265-811insGGGG | NP_001351249.1:n.3265-812_3265-811insGGGG... | |
| NM_014662.5:c.3238-812_3238-811insGGGG | NP_055477.1:n.3238-812_3238-811insGGGG | |
| NR_110988.2:n.3237-812_3237-811insGGGG | ||
| NR_146296.1:n.3437-812_3437-811insGGGG | ||
| NR_157125.1:n.3228-812_3228-811insGGGG | ||
| NR_157126.1:n.3420-812_3420-811insGGGG | ||
| NR_157128.1:n.3471-812_3471-811insGGGG | ||
| XM_011530557.2:c.3304-812_3304-811insGGGG | XP_011528859.1:n.3304-812_3304-811insGGGG... | |
| XM_011530559.2:c.3238-812_3238-811insGGGG | XP_011528861.1:n.3238-812_3238-811insGGGG... | |
| XM_011530561.2:c.3070-812_3070-811insGGGG | XP_011528863.1:n.3070-812_3070-811insGGGG... | |
| XM_011530562.2:c.3331-812_3331-811insGGGG | XP_011528864.1:n.3331-812_3331-811insGGGG... | |
| XM_011530563.2:c.3031-812_3031-811insGGGG | XP_011528865.1:n.3031-812_3031-811insGGGG... | |
| XM_011530565.2:c.3331-812_3331-811insGGGG | XP_011528867.1:n.3331-812_3331-811insGGGG... | |
| XM_011530568.2:c.3265-812_3265-811insGGGG | XP_011528870.1:n.3265-812_3265-811insGGGG... | |
| XM_011530569.2:c.1225-812_1225-811insGGGG | XP_011528871.1:n.1225-812_1225-811insGGGG... | |
| XM_024452305.1:c.1198-812_1198-811insGGGG | XP_024308073.1:n.1198-812_1198-811insGGGG... | |
| XR_001755389.1:n.3540-812_3540-811insGGGG | ||
| XR_001755390.1:n.3540-812_3540-811insGGGG | ||
| XR_937973.2:n.3306-812_3306-811insGGGG | ||
| NM_001242896.3:c.3331-812_3331-811insGGGG MANE Select | NP_001229825.1:n.3331-812_3331-811insGGGG... | |
| NM_001242897.2:c.3031-812_3031-811insGGGG | NP_001229826.1:n.3031-812_3031-811insGGGG... | |
| NM_001363852.2:c.3265-812_3265-811insGGGG | NP_001350781.1:n.3265-812_3265-811insGGGG... | |
| NM_001363854.2:c.3097-812_3097-811insGGGG | NP_001350783.1:n.3097-812_3097-811insGGGG... | |
| NM_001369901.1:c.3247-812_3247-811insGGGG | NP_001356830.1:n.3247-812_3247-811insGGGG... | |
| NM_001369902.1:c.3247-812_3247-811insGGGG | NP_001356831.1:n.3247-812_3247-811insGGGG... | |
| NM_001369903.1:c.3238-812_3238-811insGGGG | NP_001356832.1:n.3238-812_3238-811insGGGG... | |
| NR_146296.2:n.3420-812_3420-811insGGGG | ||
| NM_001136029.4:c.3304-812_3304-811insGGGG | NP_001129501.1:n.3304-812_3304-811insGGGG... | |
| NM_001364318.2:c.3331-812_3331-811insGGGG | NP_001351247.1:n.3331-812_3331-811insGGGG... | |
| NM_001364319.2:c.3097-812_3097-811insGGGG | NP_001351248.1:n.3097-812_3097-811insGGGG... | |
| NM_001364320.2:c.3265-812_3265-811insGGGG | NP_001351249.1:n.3265-812_3265-811insGGGG... | |
| NM_014662.6:c.3238-812_3238-811insGGGG | NP_055477.1:n.3238-812_3238-811insGGGG | |
| NR_157125.2:n.3228-812_3228-811insGGGG | ||
| NR_157126.2:n.3420-812_3420-811insGGGG |