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
dbSNP Id:
rs1290937073
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58891631_58891663dup , CM000682.2:g.58891631_58891663dup | GRCh38 |
| NC_000020.10:g.57466686_57466718dup , CM000682.1:g.57466686_57466718dup | GRCh37 |
| NC_000020.9:g.56900081_56900113dup | NCBI36 |
| NG_016194.1:g.56892_56924dup | |
| NG_016194.2:g.56892_56924dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349036.9:c.2069-3981_2069-3949dup | ENSP00000265621.6:n.2069-3981_2069-3949du... | |
| ENST00000419558.7:c.*43-3981_*43-3949dup | ENSP00000416234.2:n.*43-3981_*43-3949dup | |
| ENST00000423897.7:c.2069-3981_2069-3949dup | ENSP00000412356.2:n.2069-3981_2069-3949du... | |
| ENST00000453292.7:c.781-3981_781-3949dup | ENSP00000392000.2:n.781-3981_781-3949dup | |
| ENST00000462499.6:c.-38-3981_-38-3949dup | ENSP00000499758.2:n.-38-3981_-38-3949dup | |
| ENST00000464624.7:c.2160-3981_2160-3949dup | ENSP00000499607.2:n.2160-3981_2160-3949du... | |
| ENST00000464788.6:c.-39+2418_-39+2450dup | ENSP00000499239.2:n.-39+2418_-39+2450dup | |
| ENST00000467227.6:c.-38-3981_-38-3949dup | ENSP00000499681.2:n.-38-3981_-38-3949dup | |
| ENST00000467321.6:c.-39+2585_-39+2617dup | ENSP00000499523.2:n.-39+2585_-39+2617dup | |
| ENST00000469431.6:c.-39+2225_-39+2257dup | ENSP00000499654.2:n.-39+2225_-39+2257dup | |
| ENST00000470512.6:c.-39+2278_-39+2310dup | ENSP00000499552.2:n.-39+2278_-39+2310dup | |
| ENST00000472183.6:c.-38-3981_-38-3949dup | ENSP00000499673.2:n.-38-3981_-38-3949dup | |
| ENST00000478585.6:c.-39+2278_-39+2310dup | ENSP00000499762.2:n.-39+2278_-39+2310dup | |
| ENST00000480232.6:c.-39+2082_-39+2114dup | ENSP00000499545.2:n.-39+2082_-39+2114dup | |
| ENST00000481039.6:c.-39+2723_-39+2755dup | ENSP00000499767.2:n.-39+2723_-39+2755dup | |
| ENST00000482112.6:c.-38-3981_-38-3949dup | ENSP00000499794.2:n.-38-3981_-38-3949dup | |
| ENST00000485673.6:c.-39+2082_-39+2114dup | ENSP00000499334.2:n.-39+2082_-39+2114dup | |
| ENST00000488546.6:c.-39+2813_-39+2845dup | ENSP00000499332.2:n.-39+2813_-39+2845dup | |
| ENST00000604005.6:c.-39+2299_-39+2331dup | ENSP00000474219.2:n.-39+2299_-39+2331dup | |
| ENST00000663479.2:c.-38-3981_-38-3949dup | ENSP00000499353.2:n.-38-3981_-38-3949dup | |
| ENST00000667293.2:c.-39+2727_-39+2759dup | ENSP00000499293.2:n.-39+2727_-39+2759dup | |
| ENST00000676826.2:c.2069-3981_2069-3949dup | ENSP00000504675.2:n.2069-3981_2069-3949du... | |
| ENST00000683015.1:c.909+842_909+874dup | ENSP00000506815.1:n.909+842_909+874dup | |
| ENST00000306090.12:c.44-3981_44-3949dup | ENSP00000304472.12:n.44-3981_44-3949dup | |
| ENST00000349036.8:c.2069-3981_2069-3949dup | ENSP00000265621.5:n.2069-3981_2069-3949du... | |
| ENST00000354359.12:c.-96_-64dup | ENSP00000346328.7:n.-96_-64dup | |
| ENST00000371085.8:c.-96_-64dup MANE Select | ENSP00000360126.3:n.-96_-64dup | |
| ENST00000371100.9:c.2069-3981_2069-3949dup MANE Plus Clinical | ENSP00000360141.3:n.2069-3981_2069-3949du... | |
| ENST00000419558.6:c.*43-3981_*43-3949dup | ENSP00000416234.2:n.*43-3981_*43-3949dup | |
| ENST00000423897.6:c.2069-3981_2069-3949dup | ENSP00000412356.2:n.2069-3981_2069-3949du... | |
| ENST00000453292.6:c.*43-3981_*43-3949dup | ENSP00000392000.2:n.*43-3981_*43-3949dup | |
| ENST00000461152.6:c.909+842_909+874dup | ENSP00000499274.1:n.909+842_909+874dup | |
| ENST00000481768.6:c.2227-3981_2227-3949dup | ENSP00000499644.2:n.2227-3981_2227-3949du... | |
| ENST00000490374.6:n.223-3981_223-3949dup | ||
| ENST00000657090.1:c.-38-3981_-38-3949dup | ENSP00000499380.1:n.-38-3981_-38-3949dup | |
| ENST00000663479.1:c.-38-3981_-38-3949dup | ENSP00000499353.1:n.-38-3981_-38-3949dup | |
| ENST00000667293.1:c.11-3981_11-3949dup | ENSP00000499293.1:n.11-3981_11-3949dup | |
| ENST00000676826.1:c.2069-3981_2069-3949dup | ENSP00000504675.1:n.2069-3981_2069-3949du... | |
| ENST00000265620.11:c.-96_-64dup | ENSP00000265620.7:n.-96_-64dup | |
| ENST00000313949.11:c.*43-3981_*43-3949dup | ENSP00000323571.7:n.*43-3981_*43-3949dup | |
| ENST00000349036.7:c.188-3981_188-3949dup | ENSP00000265621.4:n.188-3981_188-3949dup | |
| ENST00000354359.11:c.-96_-64dup | ENSP00000346328.7:n.-96_-64dup | |
| ENST00000371075.7:c.*43-3981_*43-3949dup MANE Plus Clinical | ENSP00000360115.3:n.*43-3981_*43-3949dup | |
| ENST00000371085.7:c.-96_-64dup | ENSP00000360126.3:n.-96_-64dup | |
| ENST00000371095.7:c.-96_-64dup | ENSP00000360136.3:n.-96_-64dup | |
| ENST00000371098.6:c.*43-3981_*43-3949dup | ENSP00000360139.2:n.*43-3981_*43-3949dup | |
| ENST00000371100.8:c.2069-3981_2069-3949dup | ENSP00000360141.3:n.2069-3981_2069-3949du... | |
| ENST00000371102.8:c.2069-3981_2069-3949dup | ENSP00000360143.4:n.2069-3981_2069-3949du... | |
| ENST00000419558.5:c.384-3981_384-3949dup | ||
| ENST00000423897.5:c.157-3981_157-3949dup | ||
| ENST00000450130.5:c.228-3981_228-3949dup | ||
| ENST00000453292.5:c.544-3981_544-3949dup | ENSP00000392000.1:n.544-3981_544-3949dup | |
| ENST00000461152.5:n.147+842_147+874dup | ||
| ENST00000462499.5:n.259-3981_259-3949dup | ||
| ENST00000464624.6:n.2121_2153dup | ||
| ENST00000464788.5:n.67+2418_67+2450dup | ||
| ENST00000464960.5:n.406+2813_406+2845dup | ||
| ENST00000467227.5:n.123-3981_123-3949dup | ||
| ENST00000467321.5:n.154+2585_154+2617dup | ||
| ENST00000468895.5:n.50+2723_50+2755dup | ||
| ENST00000469431.5:n.256+2225_256+2257dup | ||
| ENST00000470512.5:n.210+2278_210+2310dup | ||
| ENST00000472183.5:n.392-3981_392-3949dup | ||
| ENST00000477931.5:n.254+2278_254+2310dup | ||
| ENST00000478585.5:n.194+2278_194+2310dup | ||
| ENST00000480232.5:n.155+2082_155+2114dup | ||
| ENST00000480975.5:n.183+2278_183+2310dup | ||
| ENST00000481039.5:n.56+2727_56+2759dup | ||
| ENST00000481768.5:n.1324-3981_1324-3949dup | ||
| ENST00000482112.5:n.259-3981_259-3949dup | ||
| ENST00000484504.5:n.127+2278_127+2310dup | ||
| ENST00000485673.5:n.426+2082_426+2114dup | ||
| ENST00000488546.5:n.40+2813_40+2845dup | ||
| ENST00000490374.5:n.255-3981_255-3949dup | ||
| ENST00000491348.5:n.534-3981_534-3949dup | ||
| ENST00000493744.5:n.233-3981_233-3949dup | ||
| ENST00000604005.5:c.-39+2299_-39+2331dup | ENSP00000474219.1:n.-39+2299_-39+2331dup | |
| NM_000516.4:c.-96_-64dup | NP_000507.1:n.-96_-64dup | |
| NM_000516.5:c.-96_-64dup | NP_000507.1:n.-96_-64dup | |
| NM_001077488.2:c.-96_-64dup | NP_001070956.1:n.-96_-64dup | |
| NM_001077488.3:c.-96_-64dup | NP_001070956.1:n.-96_-64dup | |
| NM_001077489.2:c.-96_-64dup | NP_001070957.1:n.-96_-64dup | |
| NM_001077489.3:c.-96_-64dup | NP_001070957.1:n.-96_-64dup | |
| NM_001077490.1:c.*1-3981_*1-3949dup | NP_001070958.1:n.*1-3981_*1-3949dup | |
| NM_001077490.2:c.*1-3981_*1-3949dup | NP_001070958.1:n.*1-3981_*1-3949dup | |
| NM_001309840.1:c.-39+2278_-39+2310dup | NP_001296769.1:n.-39+2278_-39+2310dup | |
| NM_001309842.1:c.-96_-64dup | NP_001296771.1:n.-96_-64dup | |
| NM_001309861.1:c.-38-3981_-38-3949dup | NP_001296790.1:n.-38-3981_-38-3949dup | |
| NM_001309883.1:c.*159-3981_*159-3949dup | NP_001296812.1:n.*159-3981_*159-3949dup | |
| NM_016592.2:c.*43-3981_*43-3949dup | NP_057676.1:n.*43-3981_*43-3949dup | |
| NM_016592.3:c.*43-3981_*43-3949dup | NP_057676.1:n.*43-3981_*43-3949dup | |
| NM_080425.2:c.2069-3981_2069-3949dup | NP_536350.2:n.2069-3981_2069-3949dup | |
| NM_080425.3:c.2069-3981_2069-3949dup | NP_536350.2:n.2069-3981_2069-3949dup | |
| NM_080426.2:c.-96_-64dup | NP_536351.1:n.-96_-64dup | |
| NM_080426.3:c.-96_-64dup | NP_536351.1:n.-96_-64dup | |
| NR_003259.1:c.-4294967067+2278_-4294967067+2310dup | ||
| NR_132273.1:n.406+2813_406+2845dup | ||
| XM_017027812.2:c.2069-3981_2069-3949dup | XP_016883301.1:n.2069-3981_2069-3949dup | |
| XM_017027813.2:c.2069-3981_2069-3949dup | XP_016883302.1:n.2069-3981_2069-3949dup | |
| XM_017027814.2:c.2069-3981_2069-3949dup | XP_016883303.1:n.2069-3981_2069-3949dup | |
| XM_017027815.1:c.44-3981_44-3949dup | XP_016883304.1:n.44-3981_44-3949dup | |
| XM_017027816.1:c.-400_-368dup | XP_016883305.1:n.-400_-368dup | |
| XM_017027817.1:c.-39+2278_-39+2310dup | XP_016883306.1:n.-39+2278_-39+2310dup | |
| XM_017027819.1:c.-39+2299_-39+2331dup | XP_016883308.1:n.-39+2299_-39+2331dup | |
| XM_017027821.1:c.*43-3981_*43-3949dup | XP_016883310.1:n.*43-3981_*43-3949dup | |
| XM_017027822.1:c.*43-3981_*43-3949dup | XP_016883311.1:n.*43-3981_*43-3949dup | |
| XM_024451872.1:c.44-3981_44-3949dup | XP_024307640.1:n.44-3981_44-3949dup | |
| XM_024451875.1:c.-39+2299_-39+2331dup | XP_024307643.1:n.-39+2299_-39+2331dup | |
| XR_002958471.1:n.530_562dup | ||
| NM_000516.6:c.-96_-64dup | NP_000507.1:n.-96_-64dup | |
| NM_001077488.4:c.-96_-64dup | NP_001070956.1:n.-96_-64dup | |
| NM_001077489.4:c.-96_-64dup | NP_001070957.1:n.-96_-64dup | |
| NM_001309840.2:c.-39+2278_-39+2310dup | NP_001296769.1:n.-39+2278_-39+2310dup | |
| NM_001309842.2:c.-96_-64dup | NP_001296771.1:n.-96_-64dup | |
| NM_001309861.2:c.-38-3981_-38-3949dup | NP_001296790.1:n.-38-3981_-38-3949dup | |
| NM_016592.4:c.*43-3981_*43-3949dup | NP_057676.1:n.*43-3981_*43-3949dup | |
| NM_080426.4:c.-96_-64dup | NP_536351.1:n.-96_-64dup | |
| NM_000516.7:c.-96_-64dup MANE Select | NP_000507.1:n.-96_-64dup | |
| NM_001077488.5:c.-96_-64dup | NP_001070956.1:n.-96_-64dup | |
| NM_001077490.3:c.*1-3981_*1-3949dup | NP_001070958.1:n.*1-3981_*1-3949dup | |
| NM_016592.5:c.*43-3981_*43-3949dup MANE Plus Clinical | NP_057676.1:n.*43-3981_*43-3949dup | |
| NM_080425.4:c.2069-3981_2069-3949dup MANE Plus Clinical | NP_536350.2:n.2069-3981_2069-3949dup |