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_000009.12:g.131523074_131523076delinsGAC , CM000671.2:g.131523074_131523076delinsGAC | GRCh38 |
| NC_000009.11:g.134398461_134398463delinsGAC , CM000671.1:g.134398461_134398463delinsGAC | GRCh37 |
| NC_000009.10:g.133388282_133388284delinsGAC | NCBI36 |
| NG_008896.1:g.25173_25175delinsGAC | |
| NG_008896.2:g.25173_25175delinsGAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1984_1986delinsGAC | ENSP00000343034.7:p.Asp662= | |
| ENST00000404875.7:n.2686_2688delinsGAC | ||
| ENST00000423007.6:c.2203_2205delinsGAC | ENSP00000404119.2:p.Asp735= | |
| ENST00000677295.2:c.*2490_*2492delinsGAC | ENSP00000504346.2:n.*2490_*2492delinsGAC | |
| ENST00000678264.2:c.*2329_*2331delinsGAC | ENSP00000503157.2:n.*2329_*2331delinsGAC | |
| ENST00000682070.1:n.2456_2458delinsGAC | ||
| ENST00000682639.1:c.143_145delinsGAC | ||
| ENST00000682813.1:n.2543_2545delinsGAC | ||
| ENST00000683231.1:c.143_145delinsGAC | ||
| ENST00000683392.1:n.4738_4740delinsGAC | ||
| ENST00000683712.1:n.2551_2553delinsGAC | ||
| ENST00000683900.1:n.4046_4048delinsGAC | ||
| ENST00000684062.1:n.2812_2814delinsGAC | ||
| ENST00000684399.1:c.143_145delinsGAC | ||
| ENST00000684579.1:n.3992_3994delinsGAC | ||
| ENST00000341012.12:c.1984_1986delinsGAC | ENSP00000343034.7:p.Asp662= | |
| ENST00000372220.5:c.1015_1017delinsGAC | ENSP00000361294.5:p.Asp339= | |
| ENST00000372228.9:c.2212_2214delinsGAC | ENSP00000361302.3:p.Asp738= | |
| ENST00000402686.8:c.2146_2148delinsGAC MANE Select | ENSP00000385797.4:p.Asp716= | |
| ENST00000676640.1:c.2146_2148delinsGAC | ENSP00000503281.1:p.Asp716= | |
| ENST00000676803.1:c.1207_1209delinsGAC | ENSP00000503093.1:p.Asp403= | |
| ENST00000676835.1:c.*1361_*1363delinsGAC | ENSP00000502911.1:n.*1361_*1363delinsGAC | |
| ENST00000677029.1:c.1690_1692delinsGAC | ENSP00000502936.1:p.Asp564= | |
| ENST00000677099.1:c.*1856_*1858delinsGAC | ENSP00000504553.1:n.*1856_*1858delinsGAC | |
| ENST00000677216.1:c.1795_1797delinsGAC | ENSP00000503772.1:p.Asp599= | |
| ENST00000677295.1:c.*1368_*1370delinsGAC | ENSP00000504346.1:n.*1368_*1370delinsGAC | |
| ENST00000677444.1:c.2091_2093delinsGAC | ||
| ENST00000677586.1:n.1513_1515delinsGAC | ||
| ENST00000677626.1:c.1795_1797delinsGAC | ENSP00000503552.1:p.Asp599= | |
| ENST00000677853.1:c.*1154_*1156delinsGAC | ENSP00000503488.1:n.*1154_*1156delinsGAC | |
| ENST00000678264.1:c.*1523_*1525delinsGAC | ENSP00000503157.1:n.*1523_*1525delinsGAC | |
| ENST00000678303.1:c.2056_2058delinsGAC | ENSP00000503696.1:p.Asp686= | |
| ENST00000678366.1:c.*2395_*2397delinsGAC | ENSP00000504353.1:n.*2395_*2397delinsGAC | |
| ENST00000678546.1:c.*2091_*2093delinsGAC | ENSP00000503062.1:n.*2091_*2093delinsGAC | |
| ENST00000678548.1:c.*2285_*2287delinsGAC | ENSP00000503934.1:n.*2285_*2287delinsGAC | |
| ENST00000678626.1:n.1982_1984delinsGAC | ||
| ENST00000678739.1:c.*2312_*2314delinsGAC | ENSP00000503806.1:n.*2312_*2314delinsGAC | |
| ENST00000678833.1:c.*1898_*1900delinsGAC | ENSP00000503893.1:n.*1898_*1900delinsGAC | |
| ENST00000679023.1:c.1984_1986delinsGAC | ENSP00000503718.1:p.Asp662= | |
| ENST00000679076.1:c.1765_1767delinsGAC | ||
| ENST00000679111.1:c.*902_*904delinsGAC | ENSP00000504257.1:n.*902_*904delinsGAC | |
| ENST00000679189.1:c.1795_1797delinsGAC | ENSP00000503356.1:p.Asp599= | |
| ENST00000341012.11:c.1984_1986delinsGAC | ENSP00000343034.7:p.Asp662= | |
| ENST00000372220.4:c.1009_1011delinsGAC | ENSP00000361294.4:p.Asp337= | |
| ENST00000372228.7:c.2212_2214delinsGAC | ENSP00000361302.3:p.Asp738= | |
| ENST00000402686.7:c.2146_2148delinsGAC | ENSP00000385797.3:p.Asp716= | |
| ENST00000404875.6:c.1795_1797delinsGAC | ENSP00000384531.2:p.Asp599= | |
| ENST00000423007.5:c.2146_2148delinsGAC | ENSP00000404119.1:p.Asp716= | |
| ENST00000485278.5:n.2696_2698delinsGAC | ||
| NM_001077365.1:c.2146_2148delinsGAC | NP_001070833.1:p.Asp716= | |
| NM_001077366.1:c.1984_1986delinsGAC | NP_001070834.1:p.Asp662= | |
| NM_001136113.1:c.2146_2148delinsGAC | NP_001129585.1:p.Asp716= | |
| NM_001136114.1:c.1795_1797delinsGAC | NP_001129586.1:p.Asp599= | |
| NM_007171.3:c.2212_2214delinsGAC | NP_009102.3:p.Asp738= | |
| XM_005272156.1:c.2212_2214delinsGAC | XP_005272213.1:p.Asp738= | |
| XM_005272158.1:c.2050_2052delinsGAC | XP_005272215.1:p.Asp684= | |
| XM_005272159.1:c.1861_1863delinsGAC | XP_005272216.1:p.Asp621= | |
| XM_005272162.1:c.1015_1017delinsGAC | XP_005272219.1:p.Asp339= | |
| XM_006716932.1:c.1861_1863delinsGAC | XP_006716995.1:p.Asp621= | |
| XM_011518140.1:c.2065_2067delinsGAC | XP_011516442.1:p.Asp689= | |
| XM_011518141.1:c.1999_2001delinsGAC | XP_011516443.1:p.Asp667= | |
| XM_011518142.1:c.1903_1905delinsGAC | XP_011516444.1:p.Asp635= | |
| XM_011518143.1:c.1897_1899delinsGAC | XP_011516445.1:p.Asp633= | |
| XM_011518145.1:c.1756_1758delinsGAC | XP_011516447.1:p.Asp586= | |
| XM_011518147.1:c.1084_1086delinsGAC | XP_011516449.1:p.Asp362= | |
| XR_929703.1:n.2388_2390delinsGAC | ||
| NM_001353193.1:c.2212_2214delinsGAC | NP_001340122.1:p.Asp738= | |
| NM_001353194.1:c.1984_1986delinsGAC | NP_001340123.1:p.Asp662= | |
| NM_001353195.1:c.1795_1797delinsGAC | NP_001340124.1:p.Asp599= | |
| NM_001353196.1:c.2056_2058delinsGAC | NP_001340125.1:p.Asp686= | |
| NM_001353197.1:c.2050_2052delinsGAC | NP_001340126.1:p.Asp684= | |
| NM_001353198.1:c.2050_2052delinsGAC | NP_001340127.1:p.Asp684= | |
| NM_001353199.1:c.1861_1863delinsGAC | NP_001340128.1:p.Asp621= | |
| NM_001353200.1:c.1690_1692delinsGAC | NP_001340129.1:p.Asp564= | |
| NR_148391.1:n.2196_2198delinsGAC | ||
| NR_148392.1:n.2414_2416delinsGAC | ||
| NR_148393.1:n.2335_2337delinsGAC | ||
| NR_148394.1:n.2089_2091delinsGAC | ||
| NR_148395.1:n.2487_2489delinsGAC | ||
| NR_148396.1:n.2121_2123delinsGAC | ||
| NR_148397.1:n.2246_2248delinsGAC | ||
| NR_148398.1:n.2201_2203delinsGAC | ||
| NR_148399.1:n.2727_2729delinsGAC | ||
| NR_148400.1:n.2326_2328delinsGAC | ||
| XM_005272162.3:c.1015_1017delinsGAC | XP_005272219.1:p.Asp339= | |
| XM_006716932.2:c.1861_1863delinsGAC | XP_006716995.1:p.Asp621= | |
| XM_011518140.2:c.2065_2067delinsGAC | XP_011516442.1:p.Asp689= | |
| XM_011518141.2:c.1999_2001delinsGAC | XP_011516443.1:p.Asp667= | |
| XM_011518142.2:c.1903_1905delinsGAC | XP_011516444.1:p.Asp635= | |
| XM_011518143.2:c.1897_1899delinsGAC | XP_011516445.1:p.Asp633= | |
| XM_011518145.2:c.1756_1758delinsGAC | XP_011516447.1:p.Asp586= | |
| XM_017014205.2:c.1015_1017delinsGAC | XP_016869694.1:p.Asp339= | |
| XM_024447380.1:c.1015_1017delinsGAC | XP_024303148.1:p.Asp339= | |
| XM_024447381.1:c.1321_1323delinsGAC | XP_024303149.1:p.Asp441= | |
| XM_024447382.1:c.1015_1017delinsGAC | XP_024303150.1:p.Asp339= | |
| XR_001746160.2:n.2316_2318delinsGAC | ||
| XR_001746162.2:n.2521_2523delinsGAC | ||
| XR_001746164.1:n.2238_2240delinsGAC | ||
| XR_001746166.2:n.2533_2535delinsGAC | ||
| NM_001077365.2:c.2146_2148delinsGAC MANE Select | NP_001070833.1:p.Asp716= | |
| NM_001077366.2:c.1984_1986delinsGAC | NP_001070834.1:p.Asp662= | |
| NM_001136113.2:c.2146_2148delinsGAC | NP_001129585.1:p.Asp716= | |
| NM_001136114.2:c.1795_1797delinsGAC | NP_001129586.1:p.Asp599= | |
| NM_001353193.2:c.2212_2214delinsGAC | NP_001340122.2:p.Asp738= | |
| NM_001353194.2:c.1984_1986delinsGAC | NP_001340123.1:p.Asp662= | |
| NM_001353195.2:c.1795_1797delinsGAC | NP_001340124.1:p.Asp599= | |
| NM_001353196.2:c.2056_2058delinsGAC | NP_001340125.1:p.Asp686= | |
| NM_001353197.2:c.2050_2052delinsGAC | NP_001340126.2:p.Asp684= | |
| NM_001353198.2:c.2050_2052delinsGAC | NP_001340127.2:p.Asp684= | |
| NM_001353199.2:c.1861_1863delinsGAC | NP_001340128.2:p.Asp621= | |
| NM_001353200.2:c.1690_1692delinsGAC | NP_001340129.1:p.Asp564= | |
| NM_001374689.1:c.2134_2136delinsGAC | NP_001361618.1:p.Asp712= | |
| NM_001374690.1:c.1927_1929delinsGAC | NP_001361619.1:p.Asp643= | |
| NM_001374691.1:c.1795_1797delinsGAC | NP_001361620.1:p.Asp599= | |
| NM_001374692.1:c.1795_1797delinsGAC | NP_001361621.1:p.Asp599= | |
| NM_001374693.1:c.1795_1797delinsGAC | NP_001361622.1:p.Asp599= | |
| NM_001374695.1:c.1756_1758delinsGAC | NP_001361624.1:p.Asp586= | |
| NM_007171.4:c.2212_2214delinsGAC | NP_009102.4:p.Asp738= | |
| NR_148391.2:n.2180_2182delinsGAC | ||
| NR_148392.2:n.2398_2400delinsGAC | ||
| NR_148393.2:n.2319_2321delinsGAC | ||
| NR_148394.2:n.2073_2075delinsGAC | ||
| NR_148395.2:n.2471_2473delinsGAC | ||
| NR_148396.2:n.2105_2107delinsGAC | ||
| NR_148397.2:n.2230_2232delinsGAC | ||
| NR_148398.2:n.2185_2187delinsGAC | ||
| NR_148399.2:n.2711_2713delinsGAC | ||
| NR_148400.2:n.2310_2312delinsGAC |