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.31869908_31869910delinsCAG , CM000684.2:g.31869908_31869910delinsCAG | GRCh38 |
| NC_000022.10:g.32265894_32265896delinsCAG , CM000684.1:g.32265894_32265896delinsCAG | GRCh37 |
| NC_000022.9:g.30595894_30595896delinsCAG | NCBI36 |
| NG_034067.1:g.120958_120960delinsCAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382112.8:c.3331-682_3331-680delinsCAG | ENSP00000371546.4:n.3331-682_3331-680deli... | |
| ENST00000400246.7:c.3031-682_3031-680delinsCAG | ENSP00000383105.3:n.3031-682_3031-680deli... | |
| ENST00000400248.7:c.3238-682_3238-680delinsCAG | ENSP00000383107.1:n.3238-682_3238-680deli... | |
| ENST00000400249.7:c.3265-682_3265-680delinsCAG | ENSP00000383108.3:n.3265-682_3265-680deli... | |
| ENST00000433147.2:c.3247-682_3247-680delinsCAG | ENSP00000410544.2:n.3247-682_3247-680deli... | |
| ENST00000448753.6:c.1387-682_1387-680delinsCAG | ENSP00000402173.1:n.1387-682_1387-680deli... | |
| ENST00000535622.6:c.3031-682_3031-680delinsCAG | ENSP00000440210.1:n.3031-682_3031-680deli... | |
| ENST00000642684.1:c.*2958-682_*2958-680delinsCAG | ENSP00000494554.1:n.*2958-682_*2958-680de... | |
| ENST00000642696.1:c.3238-682_3238-680delinsCAG | ENSP00000495917.1:n.3238-682_3238-680deli... | |
| ENST00000642771.1:c.*1342-682_*1342-680delinsCAG | ENSP00000496278.1:n.*1342-682_*1342-680de... | |
| ENST00000642956.1:n.71-682_71-680delinsCAG | ||
| ENST00000643021.1:n.290-682_290-680delinsCAG | ||
| ENST00000643097.1:n.262-682_262-680delinsCAG | ||
| ENST00000643395.1:c.3031-682_3031-680delinsCAG | ENSP00000496630.1:n.3031-682_3031-680deli... | |
| ENST00000643751.2:c.3331-682_3331-680delinsCAG | ENSP00000495496.1:n.3331-682_3331-680deli... | |
| ENST00000644162.1:c.*1959-682_*1959-680delinsCAG | ENSP00000495371.1:n.*1959-682_*1959-680de... | |
| ENST00000644331.1:c.3265-682_3265-680delinsCAG | ENSP00000494406.1:n.3265-682_3265-680deli... | |
| ENST00000644690.1:n.187-682_187-680delinsCAG | ||
| ENST00000645407.1:c.3289-682_3289-680delinsCAG | ENSP00000496252.1:n.3289-682_3289-680deli... | |
| ENST00000645494.1:c.*1315-682_*1315-680delinsCAG | ENSP00000495338.1:n.*1315-682_*1315-680de... | |
| ENST00000645547.1:c.64-682_64-680delinsCAG | ENSP00000496023.1:n.64-682_64-680delinsCA... | |
| ENST00000645560.1:c.3097-682_3097-680delinsCAG | ENSP00000495544.1:n.3097-682_3097-680deli... | |
| ENST00000645711.1:c.3304-682_3304-680delinsCAG | ENSP00000493489.1:n.3304-682_3304-680deli... | |
| ENST00000645755.1:c.*2137-682_*2137-680delinsCAG | ENSP00000495873.1:n.*2137-682_*2137-680de... | |
| ENST00000645893.1:n.2188-682_2188-680delinsCAG | ||
| ENST00000646135.1:n.803-682_803-680delinsCAG | ||
| ENST00000646465.1:c.3097-682_3097-680delinsCAG | ENSP00000495655.1:n.3097-682_3097-680deli... | |
| ENST00000646515.1:c.3331-682_3331-680delinsCAG | ENSP00000494700.1:n.3331-682_3331-680deli... | |
| ENST00000646701.1:c.1786+50683_1786+50685delinsCAG | ENSP00000496158.1:n.1786+50683_1786+50685... | |
| ENST00000646830.1:n.196-682_196-680delinsCAG | ||
| ENST00000646969.1:c.3097-682_3097-680delinsCAG | ENSP00000496724.1:n.3097-682_3097-680deli... | |
| ENST00000646998.1:c.3265-682_3265-680delinsCAG | ENSP00000494662.1:n.3265-682_3265-680deli... | |
| ENST00000647343.1:c.3247-682_3247-680delinsCAG | ENSP00000494879.1:n.3247-682_3247-680deli... | |
| ENST00000651528.2:c.3331-682_3331-680delinsCAG MANE Select | ENSP00000498382.1:n.3331-682_3331-680deli... | |
| ENST00000382111.6:c.3331-682_3331-680delinsCAG | ENSP00000371545.2:n.3331-682_3331-680deli... | |
| ENST00000382112.7:c.3304-682_3304-680delinsCAG | ENSP00000371546.3:n.3304-682_3304-680deli... | |
| ENST00000400246.5:c.3331-682_3331-680delinsCAG | ENSP00000383105.2:n.3331-682_3331-680deli... | |
| ENST00000400248.6:c.3238-682_3238-680delinsCAG | ENSP00000383107.1:n.3238-682_3238-680deli... | |
| ENST00000400249.6:c.3238-682_3238-680delinsCAG | ENSP00000383108.2:n.3238-682_3238-680deli... | |
| ENST00000433147.1:c.1457-682_1457-680delinsCAG | ||
| ENST00000448753.5:c.1387-682_1387-680delinsCAG | ENSP00000402173.1:n.1387-682_1387-680deli... | |
| ENST00000494060.1:n.139-682_139-680delinsCAG | ||
| ENST00000535622.5:c.3031-682_3031-680delinsCAG | ENSP00000440210.1:n.3031-682_3031-680deli... | |
| NM_001136029.2:c.3304-682_3304-680delinsCAG | NP_001129501.1:n.3304-682_3304-680delinsC... | |
| NM_001242896.1:c.3331-682_3331-680delinsCAG | NP_001229825.1:n.3331-682_3331-680delinsC... | |
| NM_001242897.1:c.3031-682_3031-680delinsCAG | NP_001229826.1:n.3031-682_3031-680delinsC... | |
| NM_014662.4:c.3238-682_3238-680delinsCAG | NP_055477.1:n.3238-682_3238-680delinsCAG | |
| NR_110988.1:n.3233-682_3233-680delinsCAG | ||
| XM_005261862.1:c.3331-682_3331-680delinsCAG | XP_005261919.1:n.3331-682_3331-680delinsC... | |
| XM_011530557.1:c.3304-682_3304-680delinsCAG | XP_011528859.1:n.3304-682_3304-680delinsC... | |
| XM_011530558.1:c.3265-682_3265-680delinsCAG | XP_011528860.1:n.3265-682_3265-680delinsC... | |
| XM_011530559.1:c.3238-682_3238-680delinsCAG | XP_011528861.1:n.3238-682_3238-680delinsC... | |
| XM_011530560.1:c.3097-682_3097-680delinsCAG | XP_011528862.1:n.3097-682_3097-680delinsC... | |
| XM_011530561.1:c.3070-682_3070-680delinsCAG | XP_011528863.1:n.3070-682_3070-680delinsC... | |
| XM_011530562.1:c.3331-682_3331-680delinsCAG | XP_011528864.1:n.3331-682_3331-680delinsC... | |
| XM_011530563.1:c.3031-682_3031-680delinsCAG | XP_011528865.1:n.3031-682_3031-680delinsC... | |
| XM_011530564.1:c.3331-682_3331-680delinsCAG | XP_011528866.1:n.3331-682_3331-680delinsC... | |
| XM_011530565.1:c.3331-682_3331-680delinsCAG | XP_011528867.1:n.3331-682_3331-680delinsC... | |
| XM_011530566.1:c.3331-682_3331-680delinsCAG | XP_011528868.1:n.3331-682_3331-680delinsC... | |
| XM_011530567.1:c.3331-682_3331-680delinsCAG | XP_011528869.1:n.3331-682_3331-680delinsC... | |
| XM_011530568.1:c.3265-682_3265-680delinsCAG | XP_011528870.1:n.3265-682_3265-680delinsC... | |
| XM_011530569.1:c.1225-682_1225-680delinsCAG | XP_011528871.1:n.1225-682_1225-680delinsC... | |
| XR_937972.1:n.3528-682_3528-680delinsCAG | ||
| XR_937973.1:n.3294-682_3294-680delinsCAG | ||
| NM_001136029.3:c.3304-682_3304-680delinsCAG | NP_001129501.1:n.3304-682_3304-680delinsC... | |
| NM_001242896.2:c.3331-682_3331-680delinsCAG | NP_001229825.1:n.3331-682_3331-680delinsC... | |
| NM_001363852.1:c.3265-682_3265-680delinsCAG | NP_001350781.1:n.3265-682_3265-680delinsC... | |
| NM_001363854.1:c.3097-682_3097-680delinsCAG | NP_001350783.1:n.3097-682_3097-680delinsC... | |
| NM_001364318.1:c.3331-682_3331-680delinsCAG | NP_001351247.1:n.3331-682_3331-680delinsC... | |
| NM_001364319.1:c.3097-682_3097-680delinsCAG | NP_001351248.1:n.3097-682_3097-680delinsC... | |
| NM_001364320.1:c.3265-682_3265-680delinsCAG | NP_001351249.1:n.3265-682_3265-680delinsC... | |
| NM_014662.5:c.3238-682_3238-680delinsCAG | NP_055477.1:n.3238-682_3238-680delinsCAG | |
| NR_110988.2:n.3237-682_3237-680delinsCAG | ||
| NR_146296.1:n.3437-682_3437-680delinsCAG | ||
| NR_157125.1:n.3228-682_3228-680delinsCAG | ||
| NR_157126.1:n.3420-682_3420-680delinsCAG | ||
| NR_157128.1:n.3471-682_3471-680delinsCAG | ||
| XM_011530557.2:c.3304-682_3304-680delinsCAG | XP_011528859.1:n.3304-682_3304-680delinsC... | |
| XM_011530559.2:c.3238-682_3238-680delinsCAG | XP_011528861.1:n.3238-682_3238-680delinsC... | |
| XM_011530561.2:c.3070-682_3070-680delinsCAG | XP_011528863.1:n.3070-682_3070-680delinsC... | |
| XM_011530562.2:c.3331-682_3331-680delinsCAG | XP_011528864.1:n.3331-682_3331-680delinsC... | |
| XM_011530563.2:c.3031-682_3031-680delinsCAG | XP_011528865.1:n.3031-682_3031-680delinsC... | |
| XM_011530565.2:c.3331-682_3331-680delinsCAG | XP_011528867.1:n.3331-682_3331-680delinsC... | |
| XM_011530568.2:c.3265-682_3265-680delinsCAG | XP_011528870.1:n.3265-682_3265-680delinsC... | |
| XM_011530569.2:c.1225-682_1225-680delinsCAG | XP_011528871.1:n.1225-682_1225-680delinsC... | |
| XM_024452305.1:c.1198-682_1198-680delinsCAG | XP_024308073.1:n.1198-682_1198-680delinsC... | |
| XR_001755389.1:n.3540-682_3540-680delinsCAG | ||
| XR_001755390.1:n.3540-682_3540-680delinsCAG | ||
| XR_937973.2:n.3306-682_3306-680delinsCAG | ||
| NM_001242896.3:c.3331-682_3331-680delinsCAG MANE Select | NP_001229825.1:n.3331-682_3331-680delinsC... | |
| NM_001242897.2:c.3031-682_3031-680delinsCAG | NP_001229826.1:n.3031-682_3031-680delinsC... | |
| NM_001363852.2:c.3265-682_3265-680delinsCAG | NP_001350781.1:n.3265-682_3265-680delinsC... | |
| NM_001363854.2:c.3097-682_3097-680delinsCAG | NP_001350783.1:n.3097-682_3097-680delinsC... | |
| NM_001369901.1:c.3247-682_3247-680delinsCAG | NP_001356830.1:n.3247-682_3247-680delinsC... | |
| NM_001369902.1:c.3247-682_3247-680delinsCAG | NP_001356831.1:n.3247-682_3247-680delinsC... | |
| NM_001369903.1:c.3238-682_3238-680delinsCAG | NP_001356832.1:n.3238-682_3238-680delinsC... | |
| NR_146296.2:n.3420-682_3420-680delinsCAG | ||
| NM_001136029.4:c.3304-682_3304-680delinsCAG | NP_001129501.1:n.3304-682_3304-680delinsC... | |
| NM_001364318.2:c.3331-682_3331-680delinsCAG | NP_001351247.1:n.3331-682_3331-680delinsC... | |
| NM_001364319.2:c.3097-682_3097-680delinsCAG | NP_001351248.1:n.3097-682_3097-680delinsC... | |
| NM_001364320.2:c.3265-682_3265-680delinsCAG | NP_001351249.1:n.3265-682_3265-680delinsC... | |
| NM_014662.6:c.3238-682_3238-680delinsCAG | NP_055477.1:n.3238-682_3238-680delinsCAG | |
| NR_157125.2:n.3228-682_3228-680delinsCAG | ||
| NR_157126.2:n.3420-682_3420-680delinsCAG |