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_000003.12:g.12604192_12604195delinsCCCT , CM000665.2:g.12604192_12604195delinsCCCT | GRCh38 |
| NC_000003.11:g.12645691_12645694delinsCCCT , CM000665.1:g.12645691_12645694delinsCCCT | GRCh37 |
| NC_000003.10:g.12620691_12620694delinsCCCT | NCBI36 |
| NG_007467.1:g.64985_64988delinsAGGG , LRG_413:g.64985_64988delinsAGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000416093.2:c.*452_*455delinsAGGG | ENSP00000391265.2:n.*452_*455delinsAGGG | |
| ENST00000423275.6:c.*452_*455delinsAGGG | ENSP00000401088.1:n.*452_*455delinsAGGG | |
| ENST00000432427.3:c.95_98delinsAGGG | ||
| ENST00000465826.6:n.366_369delinsAGGG | ||
| ENST00000491290.2:n.1152_1155delinsAGGG | ||
| ENST00000684903.1:c.*452_*455delinsAGGG | ENSP00000508612.1:n.*452_*455delinsAGGG | |
| ENST00000685348.1:c.*452_*455delinsAGGG | ENSP00000510285.1:n.*452_*455delinsAGGG | |
| ENST00000685437.1:c.676_679delinsAGGG | ENSP00000508794.1:p.Ser226_Thr227delinsAr... | |
| ENST00000685653.1:c.775_778delinsAGGG | ENSP00000509968.1:p.Ser259_Thr260delinsAr... | |
| ENST00000685738.1:c.775_778delinsAGGG | ENSP00000510156.1:p.Ser259_Thr260delinsAr... | |
| ENST00000685959.1:c.775_778delinsAGGG | ENSP00000510452.1:p.Ser259_Thr260delinsAr... | |
| ENST00000686409.1:n.1375_1378delinsAGGG | ||
| ENST00000686455.1:n.1138_1141delinsAGGG | ||
| ENST00000686479.1:n.1146_1149delinsAGGG | ||
| ENST00000686762.1:c.775_778delinsAGGG | ENSP00000509767.1:p.Ser259_Thr260delinsAr... | |
| ENST00000687257.1:n.1011_1014delinsAGGG | ||
| ENST00000687326.1:c.775_778delinsAGGG | ENSP00000509665.1:p.Ser259_Thr260delinsAr... | |
| ENST00000687486.1:c.95_98delinsAGGG | ||
| ENST00000687505.1:n.893_896delinsAGGG | ||
| ENST00000687923.1:c.676_679delinsAGGG | ENSP00000510255.1:p.Ser226_Thr227delinsAr... | |
| ENST00000687940.1:n.1152_1155delinsAGGG | ||
| ENST00000688269.1:n.1383_1386delinsAGGG | ||
| ENST00000688326.1:c.95_98delinsAGGG | ||
| ENST00000688444.1:n.1101_1104delinsAGGG | ||
| ENST00000688543.1:c.676_679delinsAGGG | ENSP00000509612.1:p.Ser226_Thr227delinsAr... | |
| ENST00000688625.1:c.*353_*356delinsAGGG | ENSP00000509522.1:n.*353_*356delinsAGGG | |
| ENST00000688803.1:n.1006_1009delinsAGGG | ||
| ENST00000689033.1:c.775_778delinsAGGG | ENSP00000508983.1:p.Ser259_Thr260delinsAr... | |
| ENST00000689097.1:c.*452_*455delinsAGGG | ENSP00000509756.1:n.*452_*455delinsAGGG | |
| ENST00000689389.1:c.775_778delinsAGGG | ENSP00000510213.1:p.Ser259_Thr260delinsAr... | |
| ENST00000689418.1:c.*452_*455delinsAGGG | ENSP00000509467.1:n.*452_*455delinsAGGG | |
| ENST00000689481.1:c.*452_*455delinsAGGG | ENSP00000510248.1:n.*452_*455delinsAGGG | |
| ENST00000689540.1:n.925_928delinsAGGG | ||
| ENST00000689876.1:c.775_778delinsAGGG | ENSP00000508535.1:p.Ser259_Thr260delinsAr... | |
| ENST00000689914.1:c.775_778delinsAGGG | ENSP00000509847.1:p.Ser259_Thr260delinsAr... | |
| ENST00000690397.1:c.676_679delinsAGGG | ENSP00000508730.1:p.Ser226_Thr227delinsAr... | |
| ENST00000690460.1:c.775_778delinsAGGG | ENSP00000509106.1:p.Ser259_Thr260delinsAr... | |
| ENST00000690625.1:n.1078_1081delinsAGGG | ||
| ENST00000691268.1:c.262-3780_262-3777delinsAGGG | ||
| ENST00000691396.1:c.*568_*571delinsAGGG | ENSP00000510712.1:n.*568_*571delinsAGGG | |
| ENST00000691724.1:c.775_778delinsAGGG | ENSP00000509255.1:p.Ser259_Thr260delinsAr... | |
| ENST00000691779.1:c.*353_*356delinsAGGG | ENSP00000508592.1:n.*353_*356delinsAGGG | |
| ENST00000691899.1:c.775_778delinsAGGG | ENSP00000508763.1:p.Ser259_Thr260delinsAr... | |
| ENST00000692093.1:c.676_679delinsAGGG | ENSP00000509669.1:p.Ser226_Thr227delinsAr... | |
| ENST00000692311.1:n.1148_1151delinsAGGG | ||
| ENST00000692558.1:n.1140_1143delinsAGGG | ||
| ENST00000692773.1:c.*452_*455delinsAGGG | ENSP00000509055.1:n.*452_*455delinsAGGG | |
| ENST00000692830.1:c.*520_*523delinsAGGG | ENSP00000509461.1:n.*520_*523delinsAGGG | |
| ENST00000693069.1:c.676_679delinsAGGG | ENSP00000510072.1:p.Ser226_Thr227delinsAr... | |
| ENST00000693312.1:c.550_553delinsAGGG | ENSP00000508686.1:p.Ser184_Thr185delinsAr... | |
| ENST00000693664.1:c.775_778delinsAGGG | ENSP00000509614.1:p.Ser259_Thr260delinsAr... | |
| ENST00000693705.1:c.*452_*455delinsAGGG | ENSP00000510697.1:n.*452_*455delinsAGGG | |
| ENST00000251849.9:c.775_778delinsAGGG MANE Select | ENSP00000251849.4:p.Ser259_Thr260delinsAr... | |
| ENST00000442415.7:c.775_778delinsAGGG | ENSP00000401888.2:p.Ser259_Thr260delinsAr... | |
| ENST00000251849.8:c.775_778delinsAGGG | ENSP00000251849.4:p.Ser259_Thr260delinsAr... | |
| ENST00000416093.1:c.*353_*356delinsAGGG | ENSP00000391265.1:n.*353_*356delinsAGGG | |
| ENST00000423275.5:c.*452_*455delinsAGGG | ENSP00000401088.1:n.*452_*455delinsAGGG | |
| ENST00000432427.2:c.412_415delinsAGGG | ENSP00000398591.2:p.Ser138_Thr139delinsAr... | |
| ENST00000442415.6:c.775_778delinsAGGG | ENSP00000401888.2:p.Ser259_Thr260delinsAr... | |
| ENST00000465826.5:n.19_22delinsAGGG | ||
| ENST00000491290.1:n.296_299delinsAGGG | ||
| NM_002880.3:c.775_778delinsAGGG , LRG_413t1:c.775_778delinsAGGG | NP_002871.1:p.Ser259_Thr260delinsArgAla | |
| XM_005265355.1:c.775_778delinsAGGG | XP_005265412.1:p.Ser259_Thr260delinsArgAl... | |
| XM_005265357.1:c.676_679delinsAGGG | XP_005265414.1:p.Ser226_Thr227delinsArgAl... | |
| XM_005265358.3:c.532_535delinsAGGG | XP_005265415.1:p.Ser178_Thr179delinsArgAl... | |
| XM_005265359.3:c.433_436delinsAGGG | XP_005265416.1:p.Ser145_Thr146delinsArgAl... | |
| XM_005265360.1:c.775_778delinsAGGG | XP_005265417.1:p.Ser259_Thr260delinsArgAl... | |
| XM_011533974.1:c.775_778delinsAGGG | XP_011532276.1:p.Ser259_Thr260delinsArgAl... | |
| XM_011533975.1:c.532_535delinsAGGG | XP_011532277.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354689.1:c.775_778delinsAGGG | NP_001341618.1:p.Ser259_Thr260delinsArgAl... | |
| NM_001354690.1:c.775_778delinsAGGG | NP_001341619.1:p.Ser259_Thr260delinsArgAl... | |
| NM_001354691.1:c.532_535delinsAGGG | NP_001341620.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354692.1:c.532_535delinsAGGG | NP_001341621.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354693.1:c.676_679delinsAGGG | NP_001341622.1:p.Ser226_Thr227delinsArgAl... | |
| NM_001354694.1:c.532_535delinsAGGG | NP_001341623.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354695.1:c.433_436delinsAGGG | NP_001341624.1:p.Ser145_Thr146delinsArgAl... | |
| NR_148940.1:n.1190_1193delinsAGGG | ||
| NR_148941.1:n.1190_1193delinsAGGG | ||
| NR_148942.1:n.1190_1193delinsAGGG | ||
| XM_011533974.3:c.775_778delinsAGGG | XP_011532276.1:p.Ser259_Thr260delinsArgAl... | |
| XM_017006966.1:c.676_679delinsAGGG | XP_016862455.1:p.Ser226_Thr227delinsArgAl... | |
| XR_001740227.1:n.1007_1010delinsAGGG | ||
| NM_001354689.3:c.775_778delinsAGGG | NP_001341618.1:p.Ser259_Thr260delinsArgAl... | |
| NM_001354690.2:c.775_778delinsAGGG | NP_001341619.1:p.Ser259_Thr260delinsArgAl... | |
| NM_001354691.2:c.532_535delinsAGGG | NP_001341620.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354692.2:c.532_535delinsAGGG | NP_001341621.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354693.2:c.676_679delinsAGGG | NP_001341622.1:p.Ser226_Thr227delinsArgAl... | |
| NM_001354694.2:c.532_535delinsAGGG | NP_001341623.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354695.2:c.433_436delinsAGGG | NP_001341624.1:p.Ser145_Thr146delinsArgAl... | |
| NR_148940.2:n.1106_1109delinsAGGG | ||
| NR_148941.2:n.1106_1109delinsAGGG | ||
| NR_148942.2:n.1106_1109delinsAGGG | ||
| NM_001354690.3:c.775_778delinsAGGG | NP_001341619.1:p.Ser259_Thr260delinsArgAl... | |
| NM_001354691.3:c.532_535delinsAGGG | NP_001341620.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354692.3:c.532_535delinsAGGG | NP_001341621.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354693.3:c.676_679delinsAGGG | NP_001341622.1:p.Ser226_Thr227delinsArgAl... | |
| NM_001354694.3:c.532_535delinsAGGG | NP_001341623.1:p.Ser178_Thr179delinsArgAl... | |
| NM_001354695.3:c.433_436delinsAGGG | NP_001341624.1:p.Ser145_Thr146delinsArgAl... | |
| NM_002880.4:c.775_778delinsAGGG MANE Select | NP_002871.1:p.Ser259_Thr260delinsArgAla | |
| NR_148940.3:n.1106_1109delinsAGGG | ||
| NR_148941.3:n.1106_1109delinsAGGG | ||
| NR_148942.3:n.1106_1109delinsAGGG |