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.131521983_131521985delinsAAG , CM000671.2:g.131521983_131521985delinsAAG | GRCh38 |
| NC_000009.11:g.134397370_134397372delinsAAG , CM000671.1:g.134397370_134397372delinsAAG | GRCh37 |
| NC_000009.10:g.133387191_133387193delinsAAG | NCBI36 |
| NG_008896.1:g.24082_24084delinsAAG | |
| NG_008896.2:g.24082_24084delinsAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1664-64_1664-62delinsAAG | ENSP00000343034.7:n.1664-64_1664-62delins... | |
| ENST00000404875.7:n.2366-64_2366-62delinsAAG | ||
| ENST00000423007.6:c.1883-64_1883-62delinsAAG | ENSP00000404119.2:n.1883-64_1883-62delins... | |
| ENST00000677295.2:c.*2170-64_*2170-62delinsAAG | ENSP00000504346.2:n.*2170-64_*2170-62deli... | |
| ENST00000678264.2:c.*2009-64_*2009-62delinsAAG | ENSP00000503157.2:n.*2009-64_*2009-62deli... | |
| ENST00000682070.1:n.2291-219_2291-217delinsAAG | ||
| ENST00000682813.1:n.2230-64_2230-62delinsAAG | ||
| ENST00000683392.1:n.4573-219_4573-217delinsAAG | ||
| ENST00000683712.1:n.2231-64_2231-62delinsAAG | ||
| ENST00000683900.1:n.3726-64_3726-62delinsAAG | ||
| ENST00000684062.1:n.2492-64_2492-62delinsAAG | ||
| ENST00000684579.1:n.3672-64_3672-62delinsAAG | ||
| ENST00000684679.1:n.1053-64_1053-62delinsAAG | ||
| ENST00000341012.12:c.1664-64_1664-62delinsAAG | ENSP00000343034.7:n.1664-64_1664-62delins... | |
| ENST00000372220.5:c.695-64_695-62delinsAAG | ENSP00000361294.5:n.695-64_695-62delinsAA... | |
| ENST00000372228.9:c.1892-64_1892-62delinsAAG | ENSP00000361302.3:n.1892-64_1892-62delins... | |
| ENST00000402686.8:c.1826-64_1826-62delinsAAG MANE Select | ENSP00000385797.4:n.1826-64_1826-62delins... | |
| ENST00000676640.1:c.1826-64_1826-62delinsAAG | ENSP00000503281.1:n.1826-64_1826-62delins... | |
| ENST00000676803.1:c.887-64_887-62delinsAAG | ENSP00000503093.1:n.887-64_887-62delinsAA... | |
| ENST00000676835.1:c.*1041-64_*1041-62delinsAAG | ENSP00000502911.1:n.*1041-64_*1041-62deli... | |
| ENST00000677029.1:c.1370-64_1370-62delinsAAG | ENSP00000502936.1:n.1370-64_1370-62delins... | |
| ENST00000677099.1:c.*1536-64_*1536-62delinsAAG | ENSP00000504553.1:n.*1536-64_*1536-62deli... | |
| ENST00000677216.1:c.1475-64_1475-62delinsAAG | ENSP00000503772.1:n.1475-64_1475-62delins... | |
| ENST00000677221.1:n.851-64_851-62delinsAAG | ||
| ENST00000677295.1:c.*1203-219_*1203-217delinsAAG | ENSP00000504346.1:n.*1203-219_*1203-217de... | |
| ENST00000677444.1:c.1771-64_1771-62delinsAAG | ||
| ENST00000677586.1:n.1193-64_1193-62delinsAAG | ||
| ENST00000677626.1:c.1475-64_1475-62delinsAAG | ENSP00000503552.1:n.1475-64_1475-62delins... | |
| ENST00000677853.1:c.*834-64_*834-62delinsAAG | ENSP00000503488.1:n.*834-64_*834-62delins... | |
| ENST00000678202.1:n.985-64_985-62delinsAAG | ||
| ENST00000678264.1:c.*1203-64_*1203-62delinsAAG | ENSP00000503157.1:n.*1203-64_*1203-62deli... | |
| ENST00000678303.1:c.1736-64_1736-62delinsAAG | ENSP00000503696.1:n.1736-64_1736-62delins... | |
| ENST00000678366.1:c.*2075-64_*2075-62delinsAAG | ENSP00000504353.1:n.*2075-64_*2075-62deli... | |
| ENST00000678546.1:c.*1771-64_*1771-62delinsAAG | ENSP00000503062.1:n.*1771-64_*1771-62deli... | |
| ENST00000678548.1:c.*1901_*1903delinsAAG | ENSP00000503934.1:n.*1901_*1903delinsAAG | |
| ENST00000678626.1:n.1662-64_1662-62delinsAAG | ||
| ENST00000678739.1:c.*2147-219_*2147-217delinsAAG | ENSP00000503806.1:n.*2147-219_*2147-217de... | |
| ENST00000678833.1:c.*1578-64_*1578-62delinsAAG | ENSP00000503893.1:n.*1578-64_*1578-62deli... | |
| ENST00000679023.1:c.1664-64_1664-62delinsAAG | ENSP00000503718.1:n.1664-64_1664-62delins... | |
| ENST00000679076.1:c.1445-64_1445-62delinsAAG | ||
| ENST00000679111.1:c.*582-64_*582-62delinsAAG | ENSP00000504257.1:n.*582-64_*582-62delins... | |
| ENST00000679189.1:c.1475-64_1475-62delinsAAG | ENSP00000503356.1:n.1475-64_1475-62delins... | |
| ENST00000341012.11:c.1664-64_1664-62delinsAAG | ENSP00000343034.7:n.1664-64_1664-62delins... | |
| ENST00000372220.4:c.689-64_689-62delinsAAG | ENSP00000361294.4:n.689-64_689-62delinsAA... | |
| ENST00000372228.7:c.1892-64_1892-62delinsAAG | ENSP00000361302.3:n.1892-64_1892-62delins... | |
| ENST00000402686.7:c.1826-64_1826-62delinsAAG | ENSP00000385797.3:n.1826-64_1826-62delins... | |
| ENST00000404875.6:c.1475-64_1475-62delinsAAG | ENSP00000384531.2:n.1475-64_1475-62delins... | |
| ENST00000423007.5:c.1826-64_1826-62delinsAAG | ENSP00000404119.1:n.1826-64_1826-62delins... | |
| ENST00000485278.5:n.2376-64_2376-62delinsAAG | ||
| ENST00000494883.1:n.369-64_369-62delinsAAG | ||
| NM_001077365.1:c.1826-64_1826-62delinsAAG | NP_001070833.1:n.1826-64_1826-62delinsAAG... | |
| NM_001077366.1:c.1664-64_1664-62delinsAAG | NP_001070834.1:n.1664-64_1664-62delinsAAG... | |
| NM_001136113.1:c.1826-64_1826-62delinsAAG | NP_001129585.1:n.1826-64_1826-62delinsAAG... | |
| NM_001136114.1:c.1475-64_1475-62delinsAAG | NP_001129586.1:n.1475-64_1475-62delinsAAG... | |
| NM_007171.3:c.1892-64_1892-62delinsAAG | NP_009102.3:n.1892-64_1892-62delinsAAG | |
| XM_005272156.1:c.1892-64_1892-62delinsAAG | XP_005272213.1:n.1892-64_1892-62delinsAAG... | |
| XM_005272158.1:c.1730-64_1730-62delinsAAG | XP_005272215.1:n.1730-64_1730-62delinsAAG... | |
| XM_005272159.1:c.1541-64_1541-62delinsAAG | XP_005272216.1:n.1541-64_1541-62delinsAAG... | |
| XM_005272162.1:c.695-64_695-62delinsAAG | XP_005272219.1:n.695-64_695-62delinsAAG | |
| XM_006716932.1:c.1541-64_1541-62delinsAAG | XP_006716995.1:n.1541-64_1541-62delinsAAG... | |
| XM_011518140.1:c.1745-64_1745-62delinsAAG | XP_011516442.1:n.1745-64_1745-62delinsAAG... | |
| XM_011518141.1:c.1679-64_1679-62delinsAAG | XP_011516443.1:n.1679-64_1679-62delinsAAG... | |
| XM_011518142.1:c.1583-64_1583-62delinsAAG | XP_011516444.1:n.1583-64_1583-62delinsAAG... | |
| XM_011518143.1:c.1577-64_1577-62delinsAAG | XP_011516445.1:n.1577-64_1577-62delinsAAG... | |
| XM_011518145.1:c.1436-64_1436-62delinsAAG | XP_011516447.1:n.1436-64_1436-62delinsAAG... | |
| XM_011518147.1:c.764-64_764-62delinsAAG | XP_011516449.1:n.764-64_764-62delinsAAG | |
| XR_929703.1:n.2068-64_2068-62delinsAAG | ||
| NM_001353193.1:c.1892-64_1892-62delinsAAG | NP_001340122.1:n.1892-64_1892-62delinsAAG... | |
| NM_001353194.1:c.1664-64_1664-62delinsAAG | NP_001340123.1:n.1664-64_1664-62delinsAAG... | |
| NM_001353195.1:c.1475-64_1475-62delinsAAG | NP_001340124.1:n.1475-64_1475-62delinsAAG... | |
| NM_001353196.1:c.1736-64_1736-62delinsAAG | NP_001340125.1:n.1736-64_1736-62delinsAAG... | |
| NM_001353197.1:c.1730-64_1730-62delinsAAG | NP_001340126.1:n.1730-64_1730-62delinsAAG... | |
| NM_001353198.1:c.1730-64_1730-62delinsAAG | NP_001340127.1:n.1730-64_1730-62delinsAAG... | |
| NM_001353199.1:c.1541-64_1541-62delinsAAG | NP_001340128.1:n.1541-64_1541-62delinsAAG... | |
| NM_001353200.1:c.1370-64_1370-62delinsAAG | NP_001340129.1:n.1370-64_1370-62delinsAAG... | |
| NR_148391.1:n.1876-64_1876-62delinsAAG | ||
| NR_148392.1:n.2094-64_2094-62delinsAAG | ||
| NR_148393.1:n.2015-64_2015-62delinsAAG | ||
| NR_148394.1:n.1769-64_1769-62delinsAAG | ||
| NR_148395.1:n.2167-64_2167-62delinsAAG | ||
| NR_148396.1:n.1801-64_1801-62delinsAAG | ||
| NR_148397.1:n.1926-64_1926-62delinsAAG | ||
| NR_148398.1:n.1881-64_1881-62delinsAAG | ||
| NR_148399.1:n.2407-64_2407-62delinsAAG | ||
| NR_148400.1:n.2006-64_2006-62delinsAAG | ||
| XM_005272162.3:c.695-64_695-62delinsAAG | XP_005272219.1:n.695-64_695-62delinsAAG | |
| XM_006716932.2:c.1541-64_1541-62delinsAAG | XP_006716995.1:n.1541-64_1541-62delinsAAG... | |
| XM_011518140.2:c.1745-64_1745-62delinsAAG | XP_011516442.1:n.1745-64_1745-62delinsAAG... | |
| XM_011518141.2:c.1679-64_1679-62delinsAAG | XP_011516443.1:n.1679-64_1679-62delinsAAG... | |
| XM_011518142.2:c.1583-64_1583-62delinsAAG | XP_011516444.1:n.1583-64_1583-62delinsAAG... | |
| XM_011518143.2:c.1577-64_1577-62delinsAAG | XP_011516445.1:n.1577-64_1577-62delinsAAG... | |
| XM_011518145.2:c.1436-64_1436-62delinsAAG | XP_011516447.1:n.1436-64_1436-62delinsAAG... | |
| XM_017014205.2:c.695-64_695-62delinsAAG | XP_016869694.1:n.695-64_695-62delinsAAG | |
| XM_024447380.1:c.695-64_695-62delinsAAG | XP_024303148.1:n.695-64_695-62delinsAAG | |
| XM_024447381.1:c.1001-64_1001-62delinsAAG | XP_024303149.1:n.1001-64_1001-62delinsAAG... | |
| XM_024447382.1:c.695-64_695-62delinsAAG | XP_024303150.1:n.695-64_695-62delinsAAG | |
| XR_001746160.2:n.1996-64_1996-62delinsAAG | ||
| XR_001746162.2:n.2201-64_2201-62delinsAAG | ||
| XR_001746164.1:n.1918-64_1918-62delinsAAG | ||
| XR_001746166.2:n.2213-64_2213-62delinsAAG | ||
| NM_001077365.2:c.1826-64_1826-62delinsAAG MANE Select | NP_001070833.1:n.1826-64_1826-62delinsAAG... | |
| NM_001077366.2:c.1664-64_1664-62delinsAAG | NP_001070834.1:n.1664-64_1664-62delinsAAG... | |
| NM_001136113.2:c.1826-64_1826-62delinsAAG | NP_001129585.1:n.1826-64_1826-62delinsAAG... | |
| NM_001136114.2:c.1475-64_1475-62delinsAAG | NP_001129586.1:n.1475-64_1475-62delinsAAG... | |
| NM_001353193.2:c.1892-64_1892-62delinsAAG | NP_001340122.2:n.1892-64_1892-62delinsAAG... | |
| NM_001353194.2:c.1664-64_1664-62delinsAAG | NP_001340123.1:n.1664-64_1664-62delinsAAG... | |
| NM_001353195.2:c.1475-64_1475-62delinsAAG | NP_001340124.1:n.1475-64_1475-62delinsAAG... | |
| NM_001353196.2:c.1736-64_1736-62delinsAAG | NP_001340125.1:n.1736-64_1736-62delinsAAG... | |
| NM_001353197.2:c.1730-64_1730-62delinsAAG | NP_001340126.2:n.1730-64_1730-62delinsAAG... | |
| NM_001353198.2:c.1730-64_1730-62delinsAAG | NP_001340127.2:n.1730-64_1730-62delinsAAG... | |
| NM_001353199.2:c.1541-64_1541-62delinsAAG | NP_001340128.2:n.1541-64_1541-62delinsAAG... | |
| NM_001353200.2:c.1370-64_1370-62delinsAAG | NP_001340129.1:n.1370-64_1370-62delinsAAG... | |
| NM_001374689.1:c.1814-64_1814-62delinsAAG | NP_001361618.1:n.1814-64_1814-62delinsAAG... | |
| NM_001374690.1:c.1607-64_1607-62delinsAAG | NP_001361619.1:n.1607-64_1607-62delinsAAG... | |
| NM_001374691.1:c.1475-64_1475-62delinsAAG | NP_001361620.1:n.1475-64_1475-62delinsAAG... | |
| NM_001374692.1:c.1475-64_1475-62delinsAAG | NP_001361621.1:n.1475-64_1475-62delinsAAG... | |
| NM_001374693.1:c.1475-64_1475-62delinsAAG | NP_001361622.1:n.1475-64_1475-62delinsAAG... | |
| NM_001374695.1:c.1436-64_1436-62delinsAAG | NP_001361624.1:n.1436-64_1436-62delinsAAG... | |
| NM_007171.4:c.1892-64_1892-62delinsAAG | NP_009102.4:n.1892-64_1892-62delinsAAG | |
| NR_148391.2:n.1860-64_1860-62delinsAAG | ||
| NR_148392.2:n.2078-64_2078-62delinsAAG | ||
| NR_148393.2:n.1999-64_1999-62delinsAAG | ||
| NR_148394.2:n.1753-64_1753-62delinsAAG | ||
| NR_148395.2:n.2151-64_2151-62delinsAAG | ||
| NR_148396.2:n.1785-64_1785-62delinsAAG | ||
| NR_148397.2:n.1910-64_1910-62delinsAAG | ||
| NR_148398.2:n.1865-64_1865-62delinsAAG | ||
| NR_148399.2:n.2391-64_2391-62delinsAAG | ||
| NR_148400.2:n.1990-64_1990-62delinsAAG |