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_000011.10:g.17430892_17430897dup , CM000673.2:g.17430892_17430897dup | GRCh38 |
| NC_000011.9:g.17452439_17452444dup , CM000673.1:g.17452439_17452444dup | GRCh37 |
| NC_000011.8:g.17409015_17409020dup | NCBI36 |
| NG_008867.1:g.51014_51019dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.1379_1384dup | ||
| ENST00000526002.2:n.1769_1774dup | ||
| ENST00000528202.6:n.1881_1886dup | ||
| ENST00000642611.2:n.1808_1813dup | ||
| ENST00000682051.1:n.1755_1760dup | ||
| ENST00000682110.1:n.1808_1813dup | ||
| ENST00000682140.1:c.1739_1744dup | ENSP00000507829.1:p.Leu581_Phe582insSerLe... | |
| ENST00000682185.1:n.3047_3052dup | ||
| ENST00000682204.1:c.1668+1315_1668+1320dup | ENSP00000507094.1:n.1668+1315_1668+1320du... | |
| ENST00000682215.1:n.1808_1813dup | ||
| ENST00000682288.1:c.*138_*143dup | ENSP00000507506.1:n.*138_*143dup | |
| ENST00000682442.1:n.1929_1934dup | ||
| ENST00000682528.1:n.1808_1813dup | ||
| ENST00000682673.1:n.1755_1760dup | ||
| ENST00000682805.1:n.1808_1813dup | ||
| ENST00000682965.1:c.1739_1744dup | ENSP00000508229.1:p.Leu581_Phe582insSerLe... | |
| ENST00000683093.1:n.1910_1915dup | ||
| ENST00000683136.1:c.1739_1744dup | ENSP00000507768.1:p.Leu581_Phe582insSerLe... | |
| ENST00000683153.1:n.1808_1813dup | ||
| ENST00000683253.1:n.2824_2829dup | ||
| ENST00000683365.1:n.1910_1915dup | ||
| ENST00000683377.1:n.1808_1813dup | ||
| ENST00000683456.1:c.1739_1744dup | ENSP00000508318.1:p.Leu581_Phe582insSerLe... | |
| ENST00000683522.1:n.1808_1813dup | ||
| ENST00000683531.1:n.1811_1816dup | ||
| ENST00000683562.1:c.1742_1747dup | ENSP00000508265.1:p.Leu582_Phe583insSerLe... | |
| ENST00000683693.1:n.1808_1813dup | ||
| ENST00000683725.1:c.1742_1747dup | ENSP00000507496.1:p.Leu582_Phe583insSerLe... | |
| ENST00000684010.1:n.1808_1813dup | ||
| ENST00000684157.1:n.1808_1813dup | ||
| ENST00000684253.1:n.1789+1315_1789+1320dup | ||
| ENST00000684288.1:c.1742_1747dup | ENSP00000507143.1:p.Leu582_Phe583insSerLe... | |
| ENST00000684313.1:n.1723+11831_1723+11836dup | ||
| ENST00000684332.1:n.1881_1886dup | ||
| ENST00000684371.1:n.1755_1760dup | ||
| ENST00000684404.1:n.1808_1813dup | ||
| ENST00000684442.1:n.1808_1813dup | ||
| ENST00000684555.1:c.1671+1315_1671+1320dup | ENSP00000507705.1:n.1671+1315_1671+1320du... | |
| ENST00000684571.1:c.1583_1588dup | ENSP00000506935.1:p.Leu529_Phe530insSerLe... | |
| ENST00000684593.1:c.*1447_*1452dup | ENSP00000507005.1:n.*1447_*1452dup | |
| ENST00000684711.1:c.*138_*143dup | ENSP00000506841.1:n.*138_*143dup | |
| ENST00000302539.9:c.1742_1747dup | ENSP00000303960.4:p.Leu582_Phe583insSerLe... | |
| ENST00000389817.8:c.1742_1747dup MANE Select | ENSP00000374467.4:p.Leu582_Phe583insSerLe... | |
| ENST00000532728.6:c.1398+1315_1398+1320dup | ||
| ENST00000635881.1:n.1770_1775dup | ||
| ENST00000642271.1:c.1739_1744dup | ENSP00000493749.1:p.Leu581_Phe582insSerLe... | |
| ENST00000642611.1:n.1693_1698dup | ||
| ENST00000642902.1:c.1652+1315_1652+1320dup | ||
| ENST00000643260.1:c.1739_1744dup | ENSP00000494450.1:p.Leu581_Phe582insSerLe... | |
| ENST00000643562.1:c.1742_1747dup | ENSP00000496124.1:p.Leu582_Phe583insSerLe... | |
| ENST00000644447.1:c.95_100dup | ENSP00000496282.1:p.Leu33_Phe34insSerLeu | |
| ENST00000644472.1:c.*103_*108dup | ENSP00000495378.1:n.*103_*108dup | |
| ENST00000644484.1:c.1668+1315_1668+1320dup | ENSP00000493558.1:n.1668+1315_1668+1320du... | |
| ENST00000644542.1:c.*1444_*1449dup | ENSP00000495532.1:n.*1444_*1449dup | |
| ENST00000644649.1:c.912_917dup | ||
| ENST00000644675.1:c.1739_1744dup | ENSP00000494567.1:p.Leu581_Phe582insSerLe... | |
| ENST00000644757.1:c.*87+1315_*87+1320dup | ENSP00000495085.1:n.*87+1315_*87+1320dup | |
| ENST00000644772.1:c.1742_1747dup | ENSP00000494321.1:p.Leu582_Phe583insSerLe... | |
| ENST00000645076.1:c.1024_1029dup | ||
| ENST00000645744.1:c.*103_*108dup | ENSP00000494564.1:n.*103_*108dup | |
| ENST00000645760.1:c.2017_2022dup | ||
| ENST00000645884.1:c.1739_1744dup | ENSP00000495516.1:p.Leu581_Phe582insSerLe... | |
| ENST00000646003.1:c.1668+1315_1668+1320dup | ENSP00000495259.1:n.1668+1315_1668+1320du... | |
| ENST00000646207.1:c.*103_*108dup | ENSP00000495025.1:n.*103_*108dup | |
| ENST00000646276.1:c.*87+1315_*87+1320dup | ENSP00000496070.1:n.*87+1315_*87+1320dup | |
| ENST00000646592.1:c.882-2219_882-2214dup | ||
| ENST00000646902.1:c.1739_1744dup | ENSP00000494101.1:p.Leu581_Phe582insSerLe... | |
| ENST00000646993.1:c.*138_*143dup | ENSP00000493720.1:n.*138_*143dup | |
| ENST00000647013.1:c.1713_1718dup | ENSP00000496741.1:n.1713_1718dup | |
| ENST00000647015.1:c.1671+1315_1671+1320dup | ENSP00000495389.1:n.1671+1315_1671+1320du... | |
| ENST00000647086.1:c.1739_1744dup | ENSP00000493677.1:p.Leu581_Phe582insSerLe... | |
| ENST00000647158.1:c.1668+1315_1668+1320dup | ENSP00000495744.1:n.1668+1315_1668+1320du... | |
| ENST00000302539.8:c.1742_1747dup | ENSP00000303960.4:p.Leu582_Phe583insSerLe... | |
| ENST00000389817.7:c.1742_1747dup | ENSP00000374467.3:p.Leu582_Phe583insSerLe... | |
| ENST00000526002.1:n.531_536dup | ||
| ENST00000527905.5:c.1742_1747dup | ENSP00000431653.1:p.Leu582_Phe583insSerLe... | |
| ENST00000528202.5:n.257_262dup | ||
| ENST00000532728.5:n.1773_1778dup | ||
| NM_000352.4:c.1742_1747dup | NP_000343.2:p.Leu582_Phe583insSerLeu | |
| NM_001287174.1:c.1742_1747dup | NP_001274103.1:p.Leu582_Phe583insSerLeu | |
| XM_011520331.1:c.1739_1744dup | XP_011518633.1:p.Leu581_Phe582insSerLeu | |
| XM_011520332.1:c.1742_1747dup | XP_011518634.1:p.Leu582_Phe583insSerLeu | |
| XM_011520333.1:c.239_244dup | XP_011518635.1:p.Leu81_Phe82insSerLeu | |
| XM_011520334.1:c.1742_1747dup | XP_011518636.1:p.Leu582_Phe583insSerLeu | |
| XR_930890.1:n.1805_1810dup | ||
| XR_930891.1:n.1805_1810dup | ||
| XR_930892.1:n.1805_1810dup | ||
| XR_930893.1:n.1805_1810dup | ||
| NM_001351295.1:c.1742_1747dup | NP_001338224.1:p.Leu582_Phe583insSerLeu | |
| NM_001351296.1:c.1739_1744dup | NP_001338225.1:p.Leu581_Phe582insSerLeu | |
| NM_001351297.1:c.1739_1744dup | NP_001338226.1:p.Leu581_Phe582insSerLeu | |
| NR_147094.1:n.1808_1813dup | ||
| XM_017018197.2:c.1742_1747dup | XP_016873686.1:p.Leu582_Phe583insSerLeu | |
| XM_017018199.1:c.1739_1744dup | XP_016873688.1:p.Leu581_Phe582insSerLeu | |
| XM_017018201.2:c.1742_1747dup | XP_016873690.1:p.Leu582_Phe583insSerLeu | |
| XM_017018202.1:c.239_244dup | XP_016873691.1:p.Leu81_Phe82insSerLeu | |
| XM_017018204.1:c.-302_-297dup | XP_016873693.1:n.-302_-297dup | |
| XM_024448668.1:c.107_112dup | XP_024304436.1:p.Leu37_Phe38insSerLeu | |
| XR_001747945.2:n.1814_1819dup | ||
| XR_001747946.2:n.1814_1819dup | ||
| XR_002957189.1:n.1814_1819dup | ||
| NM_000352.6:c.1742_1747dup MANE Select | NP_000343.2:p.Leu582_Phe583insSerLeu | |
| NM_001287174.2:c.1742_1747dup | NP_001274103.1:p.Leu582_Phe583insSerLeu | |
| NM_001351295.2:c.1742_1747dup | NP_001338224.1:p.Leu582_Phe583insSerLeu | |
| NM_001351296.2:c.1739_1744dup | NP_001338225.1:p.Leu581_Phe582insSerLeu | |
| NM_001351297.2:c.1739_1744dup | NP_001338226.1:p.Leu581_Phe582insSerLeu | |
| NR_147094.2:n.1808_1813dup | ||
| NM_001287174.3:c.1742_1747dup | NP_001274103.1:p.Leu582_Phe583insSerLeu |