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.131521980_131521982delinsCAA , CM000671.2:g.131521980_131521982delinsCAA | GRCh38 |
| NC_000009.11:g.134397367_134397369delinsCAA , CM000671.1:g.134397367_134397369delinsCAA | GRCh37 |
| NC_000009.10:g.133387188_133387190delinsCAA | NCBI36 |
| NG_008896.1:g.24079_24081delinsCAA | |
| NG_008896.2:g.24079_24081delinsCAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1664-67_1664-65delinsCAA | ENSP00000343034.7:n.1664-67_1664-65delins... | |
| ENST00000404875.7:n.2366-67_2366-65delinsCAA | ||
| ENST00000423007.6:c.1883-67_1883-65delinsCAA | ENSP00000404119.2:n.1883-67_1883-65delins... | |
| ENST00000677295.2:c.*2170-67_*2170-65delinsCAA | ENSP00000504346.2:n.*2170-67_*2170-65deli... | |
| ENST00000678264.2:c.*2009-67_*2009-65delinsCAA | ENSP00000503157.2:n.*2009-67_*2009-65deli... | |
| ENST00000682070.1:n.2291-222_2291-220delinsCAA | ||
| ENST00000682813.1:n.2230-67_2230-65delinsCAA | ||
| ENST00000683392.1:n.4573-222_4573-220delinsCAA | ||
| ENST00000683712.1:n.2231-67_2231-65delinsCAA | ||
| ENST00000683900.1:n.3726-67_3726-65delinsCAA | ||
| ENST00000684062.1:n.2492-67_2492-65delinsCAA | ||
| ENST00000684579.1:n.3672-67_3672-65delinsCAA | ||
| ENST00000684679.1:n.1053-67_1053-65delinsCAA | ||
| ENST00000341012.12:c.1664-67_1664-65delinsCAA | ENSP00000343034.7:n.1664-67_1664-65delins... | |
| ENST00000372220.5:c.695-67_695-65delinsCAA | ENSP00000361294.5:n.695-67_695-65delinsCA... | |
| ENST00000372228.9:c.1892-67_1892-65delinsCAA | ENSP00000361302.3:n.1892-67_1892-65delins... | |
| ENST00000402686.8:c.1826-67_1826-65delinsCAA MANE Select | ENSP00000385797.4:n.1826-67_1826-65delins... | |
| ENST00000676640.1:c.1826-67_1826-65delinsCAA | ENSP00000503281.1:n.1826-67_1826-65delins... | |
| ENST00000676803.1:c.887-67_887-65delinsCAA | ENSP00000503093.1:n.887-67_887-65delinsCA... | |
| ENST00000676835.1:c.*1041-67_*1041-65delinsCAA | ENSP00000502911.1:n.*1041-67_*1041-65deli... | |
| ENST00000677029.1:c.1370-67_1370-65delinsCAA | ENSP00000502936.1:n.1370-67_1370-65delins... | |
| ENST00000677099.1:c.*1536-67_*1536-65delinsCAA | ENSP00000504553.1:n.*1536-67_*1536-65deli... | |
| ENST00000677216.1:c.1475-67_1475-65delinsCAA | ENSP00000503772.1:n.1475-67_1475-65delins... | |
| ENST00000677221.1:n.851-67_851-65delinsCAA | ||
| ENST00000677295.1:c.*1203-222_*1203-220delinsCAA | ENSP00000504346.1:n.*1203-222_*1203-220de... | |
| ENST00000677444.1:c.1771-67_1771-65delinsCAA | ||
| ENST00000677586.1:n.1193-67_1193-65delinsCAA | ||
| ENST00000677626.1:c.1475-67_1475-65delinsCAA | ENSP00000503552.1:n.1475-67_1475-65delins... | |
| ENST00000677853.1:c.*834-67_*834-65delinsCAA | ENSP00000503488.1:n.*834-67_*834-65delins... | |
| ENST00000678202.1:n.985-67_985-65delinsCAA | ||
| ENST00000678264.1:c.*1203-67_*1203-65delinsCAA | ENSP00000503157.1:n.*1203-67_*1203-65deli... | |
| ENST00000678303.1:c.1736-67_1736-65delinsCAA | ENSP00000503696.1:n.1736-67_1736-65delins... | |
| ENST00000678366.1:c.*2075-67_*2075-65delinsCAA | ENSP00000504353.1:n.*2075-67_*2075-65deli... | |
| ENST00000678546.1:c.*1771-67_*1771-65delinsCAA | ENSP00000503062.1:n.*1771-67_*1771-65deli... | |
| ENST00000678548.1:c.*1898_*1900delinsCAA | ENSP00000503934.1:n.*1898_*1900delinsCAA | |
| ENST00000678626.1:n.1662-67_1662-65delinsCAA | ||
| ENST00000678739.1:c.*2147-222_*2147-220delinsCAA | ENSP00000503806.1:n.*2147-222_*2147-220de... | |
| ENST00000678833.1:c.*1578-67_*1578-65delinsCAA | ENSP00000503893.1:n.*1578-67_*1578-65deli... | |
| ENST00000679023.1:c.1664-67_1664-65delinsCAA | ENSP00000503718.1:n.1664-67_1664-65delins... | |
| ENST00000679076.1:c.1445-67_1445-65delinsCAA | ||
| ENST00000679111.1:c.*582-67_*582-65delinsCAA | ENSP00000504257.1:n.*582-67_*582-65delins... | |
| ENST00000679189.1:c.1475-67_1475-65delinsCAA | ENSP00000503356.1:n.1475-67_1475-65delins... | |
| ENST00000341012.11:c.1664-67_1664-65delinsCAA | ENSP00000343034.7:n.1664-67_1664-65delins... | |
| ENST00000372220.4:c.689-67_689-65delinsCAA | ENSP00000361294.4:n.689-67_689-65delinsCA... | |
| ENST00000372228.7:c.1892-67_1892-65delinsCAA | ENSP00000361302.3:n.1892-67_1892-65delins... | |
| ENST00000402686.7:c.1826-67_1826-65delinsCAA | ENSP00000385797.3:n.1826-67_1826-65delins... | |
| ENST00000404875.6:c.1475-67_1475-65delinsCAA | ENSP00000384531.2:n.1475-67_1475-65delins... | |
| ENST00000423007.5:c.1826-67_1826-65delinsCAA | ENSP00000404119.1:n.1826-67_1826-65delins... | |
| ENST00000485278.5:n.2376-67_2376-65delinsCAA | ||
| ENST00000494883.1:n.369-67_369-65delinsCAA | ||
| NM_001077365.1:c.1826-67_1826-65delinsCAA | NP_001070833.1:n.1826-67_1826-65delinsCAA... | |
| NM_001077366.1:c.1664-67_1664-65delinsCAA | NP_001070834.1:n.1664-67_1664-65delinsCAA... | |
| NM_001136113.1:c.1826-67_1826-65delinsCAA | NP_001129585.1:n.1826-67_1826-65delinsCAA... | |
| NM_001136114.1:c.1475-67_1475-65delinsCAA | NP_001129586.1:n.1475-67_1475-65delinsCAA... | |
| NM_007171.3:c.1892-67_1892-65delinsCAA | NP_009102.3:n.1892-67_1892-65delinsCAA | |
| XM_005272156.1:c.1892-67_1892-65delinsCAA | XP_005272213.1:n.1892-67_1892-65delinsCAA... | |
| XM_005272158.1:c.1730-67_1730-65delinsCAA | XP_005272215.1:n.1730-67_1730-65delinsCAA... | |
| XM_005272159.1:c.1541-67_1541-65delinsCAA | XP_005272216.1:n.1541-67_1541-65delinsCAA... | |
| XM_005272162.1:c.695-67_695-65delinsCAA | XP_005272219.1:n.695-67_695-65delinsCAA | |
| XM_006716932.1:c.1541-67_1541-65delinsCAA | XP_006716995.1:n.1541-67_1541-65delinsCAA... | |
| XM_011518140.1:c.1745-67_1745-65delinsCAA | XP_011516442.1:n.1745-67_1745-65delinsCAA... | |
| XM_011518141.1:c.1679-67_1679-65delinsCAA | XP_011516443.1:n.1679-67_1679-65delinsCAA... | |
| XM_011518142.1:c.1583-67_1583-65delinsCAA | XP_011516444.1:n.1583-67_1583-65delinsCAA... | |
| XM_011518143.1:c.1577-67_1577-65delinsCAA | XP_011516445.1:n.1577-67_1577-65delinsCAA... | |
| XM_011518145.1:c.1436-67_1436-65delinsCAA | XP_011516447.1:n.1436-67_1436-65delinsCAA... | |
| XM_011518147.1:c.764-67_764-65delinsCAA | XP_011516449.1:n.764-67_764-65delinsCAA | |
| XR_929703.1:n.2068-67_2068-65delinsCAA | ||
| NM_001353193.1:c.1892-67_1892-65delinsCAA | NP_001340122.1:n.1892-67_1892-65delinsCAA... | |
| NM_001353194.1:c.1664-67_1664-65delinsCAA | NP_001340123.1:n.1664-67_1664-65delinsCAA... | |
| NM_001353195.1:c.1475-67_1475-65delinsCAA | NP_001340124.1:n.1475-67_1475-65delinsCAA... | |
| NM_001353196.1:c.1736-67_1736-65delinsCAA | NP_001340125.1:n.1736-67_1736-65delinsCAA... | |
| NM_001353197.1:c.1730-67_1730-65delinsCAA | NP_001340126.1:n.1730-67_1730-65delinsCAA... | |
| NM_001353198.1:c.1730-67_1730-65delinsCAA | NP_001340127.1:n.1730-67_1730-65delinsCAA... | |
| NM_001353199.1:c.1541-67_1541-65delinsCAA | NP_001340128.1:n.1541-67_1541-65delinsCAA... | |
| NM_001353200.1:c.1370-67_1370-65delinsCAA | NP_001340129.1:n.1370-67_1370-65delinsCAA... | |
| NR_148391.1:n.1876-67_1876-65delinsCAA | ||
| NR_148392.1:n.2094-67_2094-65delinsCAA | ||
| NR_148393.1:n.2015-67_2015-65delinsCAA | ||
| NR_148394.1:n.1769-67_1769-65delinsCAA | ||
| NR_148395.1:n.2167-67_2167-65delinsCAA | ||
| NR_148396.1:n.1801-67_1801-65delinsCAA | ||
| NR_148397.1:n.1926-67_1926-65delinsCAA | ||
| NR_148398.1:n.1881-67_1881-65delinsCAA | ||
| NR_148399.1:n.2407-67_2407-65delinsCAA | ||
| NR_148400.1:n.2006-67_2006-65delinsCAA | ||
| XM_005272162.3:c.695-67_695-65delinsCAA | XP_005272219.1:n.695-67_695-65delinsCAA | |
| XM_006716932.2:c.1541-67_1541-65delinsCAA | XP_006716995.1:n.1541-67_1541-65delinsCAA... | |
| XM_011518140.2:c.1745-67_1745-65delinsCAA | XP_011516442.1:n.1745-67_1745-65delinsCAA... | |
| XM_011518141.2:c.1679-67_1679-65delinsCAA | XP_011516443.1:n.1679-67_1679-65delinsCAA... | |
| XM_011518142.2:c.1583-67_1583-65delinsCAA | XP_011516444.1:n.1583-67_1583-65delinsCAA... | |
| XM_011518143.2:c.1577-67_1577-65delinsCAA | XP_011516445.1:n.1577-67_1577-65delinsCAA... | |
| XM_011518145.2:c.1436-67_1436-65delinsCAA | XP_011516447.1:n.1436-67_1436-65delinsCAA... | |
| XM_017014205.2:c.695-67_695-65delinsCAA | XP_016869694.1:n.695-67_695-65delinsCAA | |
| XM_024447380.1:c.695-67_695-65delinsCAA | XP_024303148.1:n.695-67_695-65delinsCAA | |
| XM_024447381.1:c.1001-67_1001-65delinsCAA | XP_024303149.1:n.1001-67_1001-65delinsCAA... | |
| XM_024447382.1:c.695-67_695-65delinsCAA | XP_024303150.1:n.695-67_695-65delinsCAA | |
| XR_001746160.2:n.1996-67_1996-65delinsCAA | ||
| XR_001746162.2:n.2201-67_2201-65delinsCAA | ||
| XR_001746164.1:n.1918-67_1918-65delinsCAA | ||
| XR_001746166.2:n.2213-67_2213-65delinsCAA | ||
| NM_001077365.2:c.1826-67_1826-65delinsCAA MANE Select | NP_001070833.1:n.1826-67_1826-65delinsCAA... | |
| NM_001077366.2:c.1664-67_1664-65delinsCAA | NP_001070834.1:n.1664-67_1664-65delinsCAA... | |
| NM_001136113.2:c.1826-67_1826-65delinsCAA | NP_001129585.1:n.1826-67_1826-65delinsCAA... | |
| NM_001136114.2:c.1475-67_1475-65delinsCAA | NP_001129586.1:n.1475-67_1475-65delinsCAA... | |
| NM_001353193.2:c.1892-67_1892-65delinsCAA | NP_001340122.2:n.1892-67_1892-65delinsCAA... | |
| NM_001353194.2:c.1664-67_1664-65delinsCAA | NP_001340123.1:n.1664-67_1664-65delinsCAA... | |
| NM_001353195.2:c.1475-67_1475-65delinsCAA | NP_001340124.1:n.1475-67_1475-65delinsCAA... | |
| NM_001353196.2:c.1736-67_1736-65delinsCAA | NP_001340125.1:n.1736-67_1736-65delinsCAA... | |
| NM_001353197.2:c.1730-67_1730-65delinsCAA | NP_001340126.2:n.1730-67_1730-65delinsCAA... | |
| NM_001353198.2:c.1730-67_1730-65delinsCAA | NP_001340127.2:n.1730-67_1730-65delinsCAA... | |
| NM_001353199.2:c.1541-67_1541-65delinsCAA | NP_001340128.2:n.1541-67_1541-65delinsCAA... | |
| NM_001353200.2:c.1370-67_1370-65delinsCAA | NP_001340129.1:n.1370-67_1370-65delinsCAA... | |
| NM_001374689.1:c.1814-67_1814-65delinsCAA | NP_001361618.1:n.1814-67_1814-65delinsCAA... | |
| NM_001374690.1:c.1607-67_1607-65delinsCAA | NP_001361619.1:n.1607-67_1607-65delinsCAA... | |
| NM_001374691.1:c.1475-67_1475-65delinsCAA | NP_001361620.1:n.1475-67_1475-65delinsCAA... | |
| NM_001374692.1:c.1475-67_1475-65delinsCAA | NP_001361621.1:n.1475-67_1475-65delinsCAA... | |
| NM_001374693.1:c.1475-67_1475-65delinsCAA | NP_001361622.1:n.1475-67_1475-65delinsCAA... | |
| NM_001374695.1:c.1436-67_1436-65delinsCAA | NP_001361624.1:n.1436-67_1436-65delinsCAA... | |
| NM_007171.4:c.1892-67_1892-65delinsCAA | NP_009102.4:n.1892-67_1892-65delinsCAA | |
| NR_148391.2:n.1860-67_1860-65delinsCAA | ||
| NR_148392.2:n.2078-67_2078-65delinsCAA | ||
| NR_148393.2:n.1999-67_1999-65delinsCAA | ||
| NR_148394.2:n.1753-67_1753-65delinsCAA | ||
| NR_148395.2:n.2151-67_2151-65delinsCAA | ||
| NR_148396.2:n.1785-67_1785-65delinsCAA | ||
| NR_148397.2:n.1910-67_1910-65delinsCAA | ||
| NR_148398.2:n.1865-67_1865-65delinsCAA | ||
| NR_148399.2:n.2391-67_2391-65delinsCAA | ||
| NR_148400.2:n.1990-67_1990-65delinsCAA |