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.31869774_31869778delinsGTTTT , CM000684.2:g.31869774_31869778delinsGTTTT | GRCh38 |
| NC_000022.10:g.32265760_32265764delinsGTTTT , CM000684.1:g.32265760_32265764delinsGTTTT | GRCh37 |
| NC_000022.9:g.30595760_30595764delinsGTTTT | NCBI36 |
| NG_034067.1:g.120824_120828delinsGTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382112.8:c.3331-816_3331-812delinsGTTTT | ENSP00000371546.4:n.3331-816_3331-812deli... | |
| ENST00000400246.7:c.3031-816_3031-812delinsGTTTT | ENSP00000383105.3:n.3031-816_3031-812deli... | |
| ENST00000400248.7:c.3238-816_3238-812delinsGTTTT | ENSP00000383107.1:n.3238-816_3238-812deli... | |
| ENST00000400249.7:c.3265-816_3265-812delinsGTTTT | ENSP00000383108.3:n.3265-816_3265-812deli... | |
| ENST00000433147.2:c.3247-816_3247-812delinsGTTTT | ENSP00000410544.2:n.3247-816_3247-812deli... | |
| ENST00000448753.6:c.1387-816_1387-812delinsGTTTT | ENSP00000402173.1:n.1387-816_1387-812deli... | |
| ENST00000535622.6:c.3031-816_3031-812delinsGTTTT | ENSP00000440210.1:n.3031-816_3031-812deli... | |
| ENST00000642684.1:c.*2958-816_*2958-812delinsGTTTT | ENSP00000494554.1:n.*2958-816_*2958-812de... | |
| ENST00000642696.1:c.3238-816_3238-812delinsGTTTT | ENSP00000495917.1:n.3238-816_3238-812deli... | |
| ENST00000642771.1:c.*1342-816_*1342-812delinsGTTTT | ENSP00000496278.1:n.*1342-816_*1342-812de... | |
| ENST00000642956.1:n.71-816_71-812delinsGTTTT | ||
| ENST00000643021.1:n.290-816_290-812delinsGTTTT | ||
| ENST00000643097.1:n.262-816_262-812delinsGTTTT | ||
| ENST00000643395.1:c.3031-816_3031-812delinsGTTTT | ENSP00000496630.1:n.3031-816_3031-812deli... | |
| ENST00000643751.2:c.3331-816_3331-812delinsGTTTT | ENSP00000495496.1:n.3331-816_3331-812deli... | |
| ENST00000644162.1:c.*1959-816_*1959-812delinsGTTTT | ENSP00000495371.1:n.*1959-816_*1959-812de... | |
| ENST00000644331.1:c.3265-816_3265-812delinsGTTTT | ENSP00000494406.1:n.3265-816_3265-812deli... | |
| ENST00000644690.1:n.187-816_187-812delinsGTTTT | ||
| ENST00000645407.1:c.3289-816_3289-812delinsGTTTT | ENSP00000496252.1:n.3289-816_3289-812deli... | |
| ENST00000645494.1:c.*1315-816_*1315-812delinsGTTTT | ENSP00000495338.1:n.*1315-816_*1315-812de... | |
| ENST00000645547.1:c.64-816_64-812delinsGTTTT | ENSP00000496023.1:n.64-816_64-812delinsGT... | |
| ENST00000645560.1:c.3097-816_3097-812delinsGTTTT | ENSP00000495544.1:n.3097-816_3097-812deli... | |
| ENST00000645711.1:c.3304-816_3304-812delinsGTTTT | ENSP00000493489.1:n.3304-816_3304-812deli... | |
| ENST00000645755.1:c.*2137-816_*2137-812delinsGTTTT | ENSP00000495873.1:n.*2137-816_*2137-812de... | |
| ENST00000645893.1:n.2188-816_2188-812delinsGTTTT | ||
| ENST00000646135.1:n.803-816_803-812delinsGTTTT | ||
| ENST00000646465.1:c.3097-816_3097-812delinsGTTTT | ENSP00000495655.1:n.3097-816_3097-812deli... | |
| ENST00000646515.1:c.3331-816_3331-812delinsGTTTT | ENSP00000494700.1:n.3331-816_3331-812deli... | |
| ENST00000646701.1:c.1786+50549_1786+50553delinsGTTTT | ENSP00000496158.1:n.1786+50549_1786+50553... | |
| ENST00000646830.1:n.196-816_196-812delinsGTTTT | ||
| ENST00000646969.1:c.3097-816_3097-812delinsGTTTT | ENSP00000496724.1:n.3097-816_3097-812deli... | |
| ENST00000646998.1:c.3265-816_3265-812delinsGTTTT | ENSP00000494662.1:n.3265-816_3265-812deli... | |
| ENST00000647343.1:c.3247-816_3247-812delinsGTTTT | ENSP00000494879.1:n.3247-816_3247-812deli... | |
| ENST00000651528.2:c.3331-816_3331-812delinsGTTTT MANE Select | ENSP00000498382.1:n.3331-816_3331-812deli... | |
| ENST00000382111.6:c.3331-816_3331-812delinsGTTTT | ENSP00000371545.2:n.3331-816_3331-812deli... | |
| ENST00000382112.7:c.3304-816_3304-812delinsGTTTT | ENSP00000371546.3:n.3304-816_3304-812deli... | |
| ENST00000400246.5:c.3331-816_3331-812delinsGTTTT | ENSP00000383105.2:n.3331-816_3331-812deli... | |
| ENST00000400248.6:c.3238-816_3238-812delinsGTTTT | ENSP00000383107.1:n.3238-816_3238-812deli... | |
| ENST00000400249.6:c.3238-816_3238-812delinsGTTTT | ENSP00000383108.2:n.3238-816_3238-812deli... | |
| ENST00000433147.1:c.1457-816_1457-812delinsGTTTT | ||
| ENST00000448753.5:c.1387-816_1387-812delinsGTTTT | ENSP00000402173.1:n.1387-816_1387-812deli... | |
| ENST00000494060.1:n.139-816_139-812delinsGTTTT | ||
| ENST00000535622.5:c.3031-816_3031-812delinsGTTTT | ENSP00000440210.1:n.3031-816_3031-812deli... | |
| NM_001136029.2:c.3304-816_3304-812delinsGTTTT | NP_001129501.1:n.3304-816_3304-812delinsG... | |
| NM_001242896.1:c.3331-816_3331-812delinsGTTTT | NP_001229825.1:n.3331-816_3331-812delinsG... | |
| NM_001242897.1:c.3031-816_3031-812delinsGTTTT | NP_001229826.1:n.3031-816_3031-812delinsG... | |
| NM_014662.4:c.3238-816_3238-812delinsGTTTT | NP_055477.1:n.3238-816_3238-812delinsGTTT... | |
| NR_110988.1:n.3233-816_3233-812delinsGTTTT | ||
| XM_005261862.1:c.3331-816_3331-812delinsGTTTT | XP_005261919.1:n.3331-816_3331-812delinsG... | |
| XM_011530557.1:c.3304-816_3304-812delinsGTTTT | XP_011528859.1:n.3304-816_3304-812delinsG... | |
| XM_011530558.1:c.3265-816_3265-812delinsGTTTT | XP_011528860.1:n.3265-816_3265-812delinsG... | |
| XM_011530559.1:c.3238-816_3238-812delinsGTTTT | XP_011528861.1:n.3238-816_3238-812delinsG... | |
| XM_011530560.1:c.3097-816_3097-812delinsGTTTT | XP_011528862.1:n.3097-816_3097-812delinsG... | |
| XM_011530561.1:c.3070-816_3070-812delinsGTTTT | XP_011528863.1:n.3070-816_3070-812delinsG... | |
| XM_011530562.1:c.3331-816_3331-812delinsGTTTT | XP_011528864.1:n.3331-816_3331-812delinsG... | |
| XM_011530563.1:c.3031-816_3031-812delinsGTTTT | XP_011528865.1:n.3031-816_3031-812delinsG... | |
| XM_011530564.1:c.3331-816_3331-812delinsGTTTT | XP_011528866.1:n.3331-816_3331-812delinsG... | |
| XM_011530565.1:c.3331-816_3331-812delinsGTTTT | XP_011528867.1:n.3331-816_3331-812delinsG... | |
| XM_011530566.1:c.3331-816_3331-812delinsGTTTT | XP_011528868.1:n.3331-816_3331-812delinsG... | |
| XM_011530567.1:c.3331-816_3331-812delinsGTTTT | XP_011528869.1:n.3331-816_3331-812delinsG... | |
| XM_011530568.1:c.3265-816_3265-812delinsGTTTT | XP_011528870.1:n.3265-816_3265-812delinsG... | |
| XM_011530569.1:c.1225-816_1225-812delinsGTTTT | XP_011528871.1:n.1225-816_1225-812delinsG... | |
| XR_937972.1:n.3528-816_3528-812delinsGTTTT | ||
| XR_937973.1:n.3294-816_3294-812delinsGTTTT | ||
| NM_001136029.3:c.3304-816_3304-812delinsGTTTT | NP_001129501.1:n.3304-816_3304-812delinsG... | |
| NM_001242896.2:c.3331-816_3331-812delinsGTTTT | NP_001229825.1:n.3331-816_3331-812delinsG... | |
| NM_001363852.1:c.3265-816_3265-812delinsGTTTT | NP_001350781.1:n.3265-816_3265-812delinsG... | |
| NM_001363854.1:c.3097-816_3097-812delinsGTTTT | NP_001350783.1:n.3097-816_3097-812delinsG... | |
| NM_001364318.1:c.3331-816_3331-812delinsGTTTT | NP_001351247.1:n.3331-816_3331-812delinsG... | |
| NM_001364319.1:c.3097-816_3097-812delinsGTTTT | NP_001351248.1:n.3097-816_3097-812delinsG... | |
| NM_001364320.1:c.3265-816_3265-812delinsGTTTT | NP_001351249.1:n.3265-816_3265-812delinsG... | |
| NM_014662.5:c.3238-816_3238-812delinsGTTTT | NP_055477.1:n.3238-816_3238-812delinsGTTT... | |
| NR_110988.2:n.3237-816_3237-812delinsGTTTT | ||
| NR_146296.1:n.3437-816_3437-812delinsGTTTT | ||
| NR_157125.1:n.3228-816_3228-812delinsGTTTT | ||
| NR_157126.1:n.3420-816_3420-812delinsGTTTT | ||
| NR_157128.1:n.3471-816_3471-812delinsGTTTT | ||
| XM_011530557.2:c.3304-816_3304-812delinsGTTTT | XP_011528859.1:n.3304-816_3304-812delinsG... | |
| XM_011530559.2:c.3238-816_3238-812delinsGTTTT | XP_011528861.1:n.3238-816_3238-812delinsG... | |
| XM_011530561.2:c.3070-816_3070-812delinsGTTTT | XP_011528863.1:n.3070-816_3070-812delinsG... | |
| XM_011530562.2:c.3331-816_3331-812delinsGTTTT | XP_011528864.1:n.3331-816_3331-812delinsG... | |
| XM_011530563.2:c.3031-816_3031-812delinsGTTTT | XP_011528865.1:n.3031-816_3031-812delinsG... | |
| XM_011530565.2:c.3331-816_3331-812delinsGTTTT | XP_011528867.1:n.3331-816_3331-812delinsG... | |
| XM_011530568.2:c.3265-816_3265-812delinsGTTTT | XP_011528870.1:n.3265-816_3265-812delinsG... | |
| XM_011530569.2:c.1225-816_1225-812delinsGTTTT | XP_011528871.1:n.1225-816_1225-812delinsG... | |
| XM_024452305.1:c.1198-816_1198-812delinsGTTTT | XP_024308073.1:n.1198-816_1198-812delinsG... | |
| XR_001755389.1:n.3540-816_3540-812delinsGTTTT | ||
| XR_001755390.1:n.3540-816_3540-812delinsGTTTT | ||
| XR_937973.2:n.3306-816_3306-812delinsGTTTT | ||
| NM_001242896.3:c.3331-816_3331-812delinsGTTTT MANE Select | NP_001229825.1:n.3331-816_3331-812delinsG... | |
| NM_001242897.2:c.3031-816_3031-812delinsGTTTT | NP_001229826.1:n.3031-816_3031-812delinsG... | |
| NM_001363852.2:c.3265-816_3265-812delinsGTTTT | NP_001350781.1:n.3265-816_3265-812delinsG... | |
| NM_001363854.2:c.3097-816_3097-812delinsGTTTT | NP_001350783.1:n.3097-816_3097-812delinsG... | |
| NM_001369901.1:c.3247-816_3247-812delinsGTTTT | NP_001356830.1:n.3247-816_3247-812delinsG... | |
| NM_001369902.1:c.3247-816_3247-812delinsGTTTT | NP_001356831.1:n.3247-816_3247-812delinsG... | |
| NM_001369903.1:c.3238-816_3238-812delinsGTTTT | NP_001356832.1:n.3238-816_3238-812delinsG... | |
| NR_146296.2:n.3420-816_3420-812delinsGTTTT | ||
| NM_001136029.4:c.3304-816_3304-812delinsGTTTT | NP_001129501.1:n.3304-816_3304-812delinsG... | |
| NM_001364318.2:c.3331-816_3331-812delinsGTTTT | NP_001351247.1:n.3331-816_3331-812delinsG... | |
| NM_001364319.2:c.3097-816_3097-812delinsGTTTT | NP_001351248.1:n.3097-816_3097-812delinsG... | |
| NM_001364320.2:c.3265-816_3265-812delinsGTTTT | NP_001351249.1:n.3265-816_3265-812delinsG... | |
| NM_014662.6:c.3238-816_3238-812delinsGTTTT | NP_055477.1:n.3238-816_3238-812delinsGTTT... | |
| NR_157125.2:n.3228-816_3228-812delinsGTTTT | ||
| NR_157126.2:n.3420-816_3420-812delinsGTTTT |