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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521990_131522049dup , CM000671.2:g.131521990_131522049dup | GRCh38 |
| NC_000009.11:g.134397377_134397436dup , CM000671.1:g.134397377_134397436dup | GRCh37 |
| NC_000009.10:g.133387198_133387257dup | NCBI36 |
| NG_008896.1:g.24089_24148dup | |
| NG_008896.2:g.24089_24148dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1664-57_1666dup | ||
| ENST00000404875.7:n.2366-57_2368dup | ||
| ENST00000423007.6:c.1883-57_1885dup | ||
| ENST00000677295.2:c.*2170-57_*2172dup | ||
| ENST00000678264.2:c.*2009-57_*2011dup | ||
| ENST00000682070.1:n.2291-212_2291-153dup | ||
| ENST00000682813.1:n.2230-57_2232dup | ||
| ENST00000683392.1:n.4573-212_4573-153dup | ||
| ENST00000683712.1:n.2231-57_2233dup | ||
| ENST00000683900.1:n.3726-57_3728dup | ||
| ENST00000684062.1:n.2492-57_2494dup | ||
| ENST00000684579.1:n.3672-57_3674dup | ||
| ENST00000684679.1:n.1053-57_1055dup | ||
| ENST00000341012.12:c.1664-57_1666dup | ||
| ENST00000372220.5:c.695-57_697dup | ||
| ENST00000372228.9:c.1892-57_1894dup | ||
| ENST00000402686.8:c.1826-57_1828dup | ||
| ENST00000676640.1:c.1826-57_1828dup | ||
| ENST00000676803.1:c.887-57_889dup | ||
| ENST00000676835.1:c.*1041-57_*1043dup | ||
| ENST00000677029.1:c.1370-57_1372dup | ||
| ENST00000677099.1:c.*1536-57_*1538dup | ||
| ENST00000677216.1:c.1475-57_1477dup | ||
| ENST00000677221.1:n.851-57_853dup | ||
| ENST00000677295.1:c.*1203-212_*1203-153dup | ENSP00000504346.1:n.*1203-212_*1203-153du... | |
| ENST00000677444.1:c.1771-57_1773dup | ||
| ENST00000677586.1:n.1193-57_1195dup | ||
| ENST00000677626.1:c.1475-57_1477dup | ||
| ENST00000677853.1:c.*834-57_*836dup | ||
| ENST00000678202.1:n.985-57_987dup | ||
| ENST00000678264.1:c.*1203-57_*1205dup | ||
| ENST00000678303.1:c.1736-57_1738dup | ||
| ENST00000678366.1:c.*2075-57_*2077dup | ||
| ENST00000678546.1:c.*1771-57_*1773dup | ||
| ENST00000678548.1:c.*1908_*1967dup | ENSP00000503934.1:n.*1908_*1967dup | |
| ENST00000678626.1:n.1662-57_1664dup | ||
| ENST00000678739.1:c.*2147-212_*2147-153dup | ENSP00000503806.1:n.*2147-212_*2147-153du... | |
| ENST00000678833.1:c.*1578-57_*1580dup | ||
| ENST00000679023.1:c.1664-57_1666dup | ||
| ENST00000679076.1:c.1445-57_1447dup | ||
| ENST00000679111.1:c.*582-57_*584dup | ||
| ENST00000679189.1:c.1475-57_1477dup | ||
| ENST00000341012.11:c.1664-57_1666dup | ||
| ENST00000372220.4:c.689-57_691dup | ||
| ENST00000372228.7:c.1892-57_1894dup | ||
| ENST00000402686.7:c.1826-57_1828dup | ||
| ENST00000404875.6:c.1475-57_1477dup | ||
| ENST00000423007.5:c.1826-57_1828dup | ||
| ENST00000485278.5:n.2376-57_2378dup | ||
| ENST00000494883.1:n.369-57_371dup | ||
| NM_001077365.1:c.1826-57_1828dup | ||
| NM_001077366.1:c.1664-57_1666dup | ||
| NM_001136113.1:c.1826-57_1828dup | ||
| NM_001136114.1:c.1475-57_1477dup | ||
| NM_007171.3:c.1892-57_1894dup | ||
| XM_005272156.1:c.1892-57_1894dup | ||
| XM_005272158.1:c.1730-57_1732dup | ||
| XM_005272159.1:c.1541-57_1543dup | ||
| XM_005272162.1:c.695-57_697dup | ||
| XM_006716932.1:c.1541-57_1543dup | ||
| XM_011518140.1:c.1745-57_1747dup | ||
| XM_011518141.1:c.1679-57_1681dup | ||
| XM_011518142.1:c.1583-57_1585dup | ||
| XM_011518143.1:c.1577-57_1579dup | ||
| XM_011518145.1:c.1436-57_1438dup | ||
| XM_011518147.1:c.764-57_766dup | ||
| XR_929703.1:n.2068-57_2070dup | ||
| NM_001353193.1:c.1892-57_1894dup | ||
| NM_001353194.1:c.1664-57_1666dup | ||
| NM_001353195.1:c.1475-57_1477dup | ||
| NM_001353196.1:c.1736-57_1738dup | ||
| NM_001353197.1:c.1730-57_1732dup | ||
| NM_001353198.1:c.1730-57_1732dup | ||
| NM_001353199.1:c.1541-57_1543dup | ||
| NM_001353200.1:c.1370-57_1372dup | ||
| NR_148391.1:n.1876-57_1878dup | ||
| NR_148392.1:n.2094-57_2096dup | ||
| NR_148393.1:n.2015-57_2017dup | ||
| NR_148394.1:n.1769-57_1771dup | ||
| NR_148395.1:n.2167-57_2169dup | ||
| NR_148396.1:n.1801-57_1803dup | ||
| NR_148397.1:n.1926-57_1928dup | ||
| NR_148398.1:n.1881-57_1883dup | ||
| NR_148399.1:n.2407-57_2409dup | ||
| NR_148400.1:n.2006-57_2008dup | ||
| XM_005272162.3:c.695-57_697dup | ||
| XM_006716932.2:c.1541-57_1543dup | ||
| XM_011518140.2:c.1745-57_1747dup | ||
| XM_011518141.2:c.1679-57_1681dup | ||
| XM_011518142.2:c.1583-57_1585dup | ||
| XM_011518143.2:c.1577-57_1579dup | ||
| XM_011518145.2:c.1436-57_1438dup | ||
| XM_017014205.2:c.695-57_697dup | ||
| XM_024447380.1:c.695-57_697dup | ||
| XM_024447381.1:c.1001-57_1003dup | ||
| XM_024447382.1:c.695-57_697dup | ||
| XR_001746160.2:n.1996-57_1998dup | ||
| XR_001746162.2:n.2201-57_2203dup | ||
| XR_001746164.1:n.1918-57_1920dup | ||
| XR_001746166.2:n.2213-57_2215dup | ||
| NM_001077365.2:c.1826-57_1828dup | ||
| NM_001077366.2:c.1664-57_1666dup | ||
| NM_001136113.2:c.1826-57_1828dup | ||
| NM_001136114.2:c.1475-57_1477dup | ||
| NM_001353193.2:c.1892-57_1894dup | ||
| NM_001353194.2:c.1664-57_1666dup | ||
| NM_001353195.2:c.1475-57_1477dup | ||
| NM_001353196.2:c.1736-57_1738dup | ||
| NM_001353197.2:c.1730-57_1732dup | ||
| NM_001353198.2:c.1730-57_1732dup | ||
| NM_001353199.2:c.1541-57_1543dup | ||
| NM_001353200.2:c.1370-57_1372dup | ||
| NM_001374689.1:c.1814-57_1816dup | ||
| NM_001374690.1:c.1607-57_1609dup | ||
| NM_001374691.1:c.1475-57_1477dup | ||
| NM_001374692.1:c.1475-57_1477dup | ||
| NM_001374693.1:c.1475-57_1477dup | ||
| NM_001374695.1:c.1436-57_1438dup | ||
| NM_007171.4:c.1892-57_1894dup | ||
| NR_148391.2:n.1860-57_1862dup | ||
| NR_148392.2:n.2078-57_2080dup | ||
| NR_148393.2:n.1999-57_2001dup | ||
| NR_148394.2:n.1753-57_1755dup | ||
| NR_148395.2:n.2151-57_2153dup | ||
| NR_148396.2:n.1785-57_1787dup | ||
| NR_148397.2:n.1910-57_1912dup | ||
| NR_148398.2:n.1865-57_1867dup | ||
| NR_148399.2:n.2391-57_2393dup | ||
| NR_148400.2:n.1990-57_1992dup |