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.31869740_31869743delinsATGT , CM000684.2:g.31869740_31869743delinsATGT | GRCh38 |
| NC_000022.10:g.32265726_32265729delinsATGT , CM000684.1:g.32265726_32265729delinsATGT | GRCh37 |
| NC_000022.9:g.30595726_30595729delinsATGT | NCBI36 |
| NG_034067.1:g.120790_120793delinsATGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382112.8:c.3331-850_3331-847delinsATGT | ENSP00000371546.4:n.3331-850_3331-847deli... | |
| ENST00000400246.7:c.3031-850_3031-847delinsATGT | ENSP00000383105.3:n.3031-850_3031-847deli... | |
| ENST00000400248.7:c.3238-850_3238-847delinsATGT | ENSP00000383107.1:n.3238-850_3238-847deli... | |
| ENST00000400249.7:c.3265-850_3265-847delinsATGT | ENSP00000383108.3:n.3265-850_3265-847deli... | |
| ENST00000433147.2:c.3247-850_3247-847delinsATGT | ENSP00000410544.2:n.3247-850_3247-847deli... | |
| ENST00000448753.6:c.1387-850_1387-847delinsATGT | ENSP00000402173.1:n.1387-850_1387-847deli... | |
| ENST00000535622.6:c.3031-850_3031-847delinsATGT | ENSP00000440210.1:n.3031-850_3031-847deli... | |
| ENST00000642684.1:c.*2958-850_*2958-847delinsATGT | ENSP00000494554.1:n.*2958-850_*2958-847de... | |
| ENST00000642696.1:c.3238-850_3238-847delinsATGT | ENSP00000495917.1:n.3238-850_3238-847deli... | |
| ENST00000642771.1:c.*1342-850_*1342-847delinsATGT | ENSP00000496278.1:n.*1342-850_*1342-847de... | |
| ENST00000642956.1:n.71-850_71-847delinsATGT | ||
| ENST00000643021.1:n.290-850_290-847delinsATGT | ||
| ENST00000643097.1:n.262-850_262-847delinsATGT | ||
| ENST00000643395.1:c.3031-850_3031-847delinsATGT | ENSP00000496630.1:n.3031-850_3031-847deli... | |
| ENST00000643751.2:c.3331-850_3331-847delinsATGT | ENSP00000495496.1:n.3331-850_3331-847deli... | |
| ENST00000644162.1:c.*1959-850_*1959-847delinsATGT | ENSP00000495371.1:n.*1959-850_*1959-847de... | |
| ENST00000644331.1:c.3265-850_3265-847delinsATGT | ENSP00000494406.1:n.3265-850_3265-847deli... | |
| ENST00000644690.1:n.187-850_187-847delinsATGT | ||
| ENST00000645407.1:c.3289-850_3289-847delinsATGT | ENSP00000496252.1:n.3289-850_3289-847deli... | |
| ENST00000645494.1:c.*1315-850_*1315-847delinsATGT | ENSP00000495338.1:n.*1315-850_*1315-847de... | |
| ENST00000645547.1:c.64-850_64-847delinsATGT | ENSP00000496023.1:n.64-850_64-847delinsAT... | |
| ENST00000645560.1:c.3097-850_3097-847delinsATGT | ENSP00000495544.1:n.3097-850_3097-847deli... | |
| ENST00000645711.1:c.3304-850_3304-847delinsATGT | ENSP00000493489.1:n.3304-850_3304-847deli... | |
| ENST00000645755.1:c.*2137-850_*2137-847delinsATGT | ENSP00000495873.1:n.*2137-850_*2137-847de... | |
| ENST00000645893.1:n.2188-850_2188-847delinsATGT | ||
| ENST00000646135.1:n.803-850_803-847delinsATGT | ||
| ENST00000646465.1:c.3097-850_3097-847delinsATGT | ENSP00000495655.1:n.3097-850_3097-847deli... | |
| ENST00000646515.1:c.3331-850_3331-847delinsATGT | ENSP00000494700.1:n.3331-850_3331-847deli... | |
| ENST00000646701.1:c.1786+50515_1786+50518delinsATGT | ENSP00000496158.1:n.1786+50515_1786+50518... | |
| ENST00000646830.1:n.196-850_196-847delinsATGT | ||
| ENST00000646969.1:c.3097-850_3097-847delinsATGT | ENSP00000496724.1:n.3097-850_3097-847deli... | |
| ENST00000646998.1:c.3265-850_3265-847delinsATGT | ENSP00000494662.1:n.3265-850_3265-847deli... | |
| ENST00000647343.1:c.3247-850_3247-847delinsATGT | ENSP00000494879.1:n.3247-850_3247-847deli... | |
| ENST00000651528.2:c.3331-850_3331-847delinsATGT MANE Select | ENSP00000498382.1:n.3331-850_3331-847deli... | |
| ENST00000382111.6:c.3331-850_3331-847delinsATGT | ENSP00000371545.2:n.3331-850_3331-847deli... | |
| ENST00000382112.7:c.3304-850_3304-847delinsATGT | ENSP00000371546.3:n.3304-850_3304-847deli... | |
| ENST00000400246.5:c.3331-850_3331-847delinsATGT | ENSP00000383105.2:n.3331-850_3331-847deli... | |
| ENST00000400248.6:c.3238-850_3238-847delinsATGT | ENSP00000383107.1:n.3238-850_3238-847deli... | |
| ENST00000400249.6:c.3238-850_3238-847delinsATGT | ENSP00000383108.2:n.3238-850_3238-847deli... | |
| ENST00000433147.1:c.1457-850_1457-847delinsATGT | ||
| ENST00000448753.5:c.1387-850_1387-847delinsATGT | ENSP00000402173.1:n.1387-850_1387-847deli... | |
| ENST00000494060.1:n.139-850_139-847delinsATGT | ||
| ENST00000535622.5:c.3031-850_3031-847delinsATGT | ENSP00000440210.1:n.3031-850_3031-847deli... | |
| NM_001136029.2:c.3304-850_3304-847delinsATGT | NP_001129501.1:n.3304-850_3304-847delinsA... | |
| NM_001242896.1:c.3331-850_3331-847delinsATGT | NP_001229825.1:n.3331-850_3331-847delinsA... | |
| NM_001242897.1:c.3031-850_3031-847delinsATGT | NP_001229826.1:n.3031-850_3031-847delinsA... | |
| NM_014662.4:c.3238-850_3238-847delinsATGT | NP_055477.1:n.3238-850_3238-847delinsATGT... | |
| NR_110988.1:n.3233-850_3233-847delinsATGT | ||
| XM_005261862.1:c.3331-850_3331-847delinsATGT | XP_005261919.1:n.3331-850_3331-847delinsA... | |
| XM_011530557.1:c.3304-850_3304-847delinsATGT | XP_011528859.1:n.3304-850_3304-847delinsA... | |
| XM_011530558.1:c.3265-850_3265-847delinsATGT | XP_011528860.1:n.3265-850_3265-847delinsA... | |
| XM_011530559.1:c.3238-850_3238-847delinsATGT | XP_011528861.1:n.3238-850_3238-847delinsA... | |
| XM_011530560.1:c.3097-850_3097-847delinsATGT | XP_011528862.1:n.3097-850_3097-847delinsA... | |
| XM_011530561.1:c.3070-850_3070-847delinsATGT | XP_011528863.1:n.3070-850_3070-847delinsA... | |
| XM_011530562.1:c.3331-850_3331-847delinsATGT | XP_011528864.1:n.3331-850_3331-847delinsA... | |
| XM_011530563.1:c.3031-850_3031-847delinsATGT | XP_011528865.1:n.3031-850_3031-847delinsA... | |
| XM_011530564.1:c.3331-850_3331-847delinsATGT | XP_011528866.1:n.3331-850_3331-847delinsA... | |
| XM_011530565.1:c.3331-850_3331-847delinsATGT | XP_011528867.1:n.3331-850_3331-847delinsA... | |
| XM_011530566.1:c.3331-850_3331-847delinsATGT | XP_011528868.1:n.3331-850_3331-847delinsA... | |
| XM_011530567.1:c.3331-850_3331-847delinsATGT | XP_011528869.1:n.3331-850_3331-847delinsA... | |
| XM_011530568.1:c.3265-850_3265-847delinsATGT | XP_011528870.1:n.3265-850_3265-847delinsA... | |
| XM_011530569.1:c.1225-850_1225-847delinsATGT | XP_011528871.1:n.1225-850_1225-847delinsA... | |
| XR_937972.1:n.3528-850_3528-847delinsATGT | ||
| XR_937973.1:n.3294-850_3294-847delinsATGT | ||
| NM_001136029.3:c.3304-850_3304-847delinsATGT | NP_001129501.1:n.3304-850_3304-847delinsA... | |
| NM_001242896.2:c.3331-850_3331-847delinsATGT | NP_001229825.1:n.3331-850_3331-847delinsA... | |
| NM_001363852.1:c.3265-850_3265-847delinsATGT | NP_001350781.1:n.3265-850_3265-847delinsA... | |
| NM_001363854.1:c.3097-850_3097-847delinsATGT | NP_001350783.1:n.3097-850_3097-847delinsA... | |
| NM_001364318.1:c.3331-850_3331-847delinsATGT | NP_001351247.1:n.3331-850_3331-847delinsA... | |
| NM_001364319.1:c.3097-850_3097-847delinsATGT | NP_001351248.1:n.3097-850_3097-847delinsA... | |
| NM_001364320.1:c.3265-850_3265-847delinsATGT | NP_001351249.1:n.3265-850_3265-847delinsA... | |
| NM_014662.5:c.3238-850_3238-847delinsATGT | NP_055477.1:n.3238-850_3238-847delinsATGT... | |
| NR_110988.2:n.3237-850_3237-847delinsATGT | ||
| NR_146296.1:n.3437-850_3437-847delinsATGT | ||
| NR_157125.1:n.3228-850_3228-847delinsATGT | ||
| NR_157126.1:n.3420-850_3420-847delinsATGT | ||
| NR_157128.1:n.3471-850_3471-847delinsATGT | ||
| XM_011530557.2:c.3304-850_3304-847delinsATGT | XP_011528859.1:n.3304-850_3304-847delinsA... | |
| XM_011530559.2:c.3238-850_3238-847delinsATGT | XP_011528861.1:n.3238-850_3238-847delinsA... | |
| XM_011530561.2:c.3070-850_3070-847delinsATGT | XP_011528863.1:n.3070-850_3070-847delinsA... | |
| XM_011530562.2:c.3331-850_3331-847delinsATGT | XP_011528864.1:n.3331-850_3331-847delinsA... | |
| XM_011530563.2:c.3031-850_3031-847delinsATGT | XP_011528865.1:n.3031-850_3031-847delinsA... | |
| XM_011530565.2:c.3331-850_3331-847delinsATGT | XP_011528867.1:n.3331-850_3331-847delinsA... | |
| XM_011530568.2:c.3265-850_3265-847delinsATGT | XP_011528870.1:n.3265-850_3265-847delinsA... | |
| XM_011530569.2:c.1225-850_1225-847delinsATGT | XP_011528871.1:n.1225-850_1225-847delinsA... | |
| XM_024452305.1:c.1198-850_1198-847delinsATGT | XP_024308073.1:n.1198-850_1198-847delinsA... | |
| XR_001755389.1:n.3540-850_3540-847delinsATGT | ||
| XR_001755390.1:n.3540-850_3540-847delinsATGT | ||
| XR_937973.2:n.3306-850_3306-847delinsATGT | ||
| NM_001242896.3:c.3331-850_3331-847delinsATGT MANE Select | NP_001229825.1:n.3331-850_3331-847delinsA... | |
| NM_001242897.2:c.3031-850_3031-847delinsATGT | NP_001229826.1:n.3031-850_3031-847delinsA... | |
| NM_001363852.2:c.3265-850_3265-847delinsATGT | NP_001350781.1:n.3265-850_3265-847delinsA... | |
| NM_001363854.2:c.3097-850_3097-847delinsATGT | NP_001350783.1:n.3097-850_3097-847delinsA... | |
| NM_001369901.1:c.3247-850_3247-847delinsATGT | NP_001356830.1:n.3247-850_3247-847delinsA... | |
| NM_001369902.1:c.3247-850_3247-847delinsATGT | NP_001356831.1:n.3247-850_3247-847delinsA... | |
| NM_001369903.1:c.3238-850_3238-847delinsATGT | NP_001356832.1:n.3238-850_3238-847delinsA... | |
| NR_146296.2:n.3420-850_3420-847delinsATGT | ||
| NM_001136029.4:c.3304-850_3304-847delinsATGT | NP_001129501.1:n.3304-850_3304-847delinsA... | |
| NM_001364318.2:c.3331-850_3331-847delinsATGT | NP_001351247.1:n.3331-850_3331-847delinsA... | |
| NM_001364319.2:c.3097-850_3097-847delinsATGT | NP_001351248.1:n.3097-850_3097-847delinsA... | |
| NM_001364320.2:c.3265-850_3265-847delinsATGT | NP_001351249.1:n.3265-850_3265-847delinsA... | |
| NM_014662.6:c.3238-850_3238-847delinsATGT | NP_055477.1:n.3238-850_3238-847delinsATGT... | |
| NR_157125.2:n.3228-850_3228-847delinsATGT | ||
| NR_157126.2:n.3420-850_3420-847delinsATGT |