UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395826C= , CM000673.2:g.17395826C= | GRCh38 |
| NC_000011.9:g.17417373C= , CM000673.1:g.17417373C= | GRCh37 |
| NC_000011.8:g.17373949C= | NCBI36 |
| NG_008867.1:g.86077G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3799+26G= | ||
| ENST00000528374.2:c.789+26G= | ||
| ENST00000529967.6:n.2537+26G= | ||
| ENST00000532220.2:n.3431+26G= | ||
| ENST00000642611.2:n.5424G= | ||
| ENST00000644057.2:n.667G= | ||
| ENST00000645004.2:n.1697+26G= | ||
| ENST00000682051.1:n.4360+26G= | ||
| ENST00000682110.1:n.4413+26G= | ||
| ENST00000682140.1:c.4064+26G= | ENSP00000507829.1:n.4064+26G= | |
| ENST00000682185.1:n.5503+26G= | ||
| ENST00000682204.1:c.*2336+26G= | ENSP00000507094.1:n.*2336+26G= | |
| ENST00000682215.1:n.4780+26G= | ||
| ENST00000682288.1:c.*2629+26G= | ENSP00000507506.1:n.*2629+26G= | |
| ENST00000682442.1:n.4633+26G= | ||
| ENST00000682528.1:n.4490+26G= | ||
| ENST00000682673.1:n.4357+26G= | ||
| ENST00000682805.1:n.4818+26G= | ||
| ENST00000682965.1:c.*620+26G= | ENSP00000508229.1:n.*620+26G= | |
| ENST00000683093.1:n.5497+26G= | ||
| ENST00000683136.1:c.4081+26G= | ENSP00000507768.1:n.4081+26G= | |
| ENST00000683153.1:n.4455+26G= | ||
| ENST00000683365.1:n.4515+26G= | ||
| ENST00000683377.1:n.4413+26G= | ||
| ENST00000683456.1:c.*1335+26G= | ENSP00000508318.1:n.*1335+26G= | |
| ENST00000683522.1:n.4413+26G= | ||
| ENST00000683562.1:c.*2367+26G= | ENSP00000508265.1:n.*2367+26G= | |
| ENST00000683693.1:n.5871G= | ||
| ENST00000683725.1:c.4198+26G= | ENSP00000507496.1:n.4198+26G= | |
| ENST00000684010.1:n.4408+26G= | ||
| ENST00000684157.1:n.5398+26G= | ||
| ENST00000684253.1:n.4316+26G= | ||
| ENST00000684288.1:c.*2370+26G= | ENSP00000507143.1:n.*2370+26G= | |
| ENST00000684313.1:n.3845+26G= | ||
| ENST00000684332.1:n.4486+26G= | ||
| ENST00000684371.1:n.4519+26G= | ||
| ENST00000684404.1:n.5441+26G= | ||
| ENST00000684442.1:n.4637+26G= | ||
| ENST00000684555.1:c.*2410+26G= | ENSP00000507705.1:n.*2410+26G= | |
| ENST00000684571.1:c.4039+26G= | ENSP00000506935.1:n.4039+26G= | |
| ENST00000684593.1:c.*3903+26G= | ENSP00000507005.1:n.*3903+26G= | |
| ENST00000684711.1:c.*2594+26G= | ENSP00000506841.1:n.*2594+26G= | |
| ENST00000302539.9:c.4201+26G= | ENSP00000303960.4:n.4201+26G= | |
| ENST00000389817.8:c.4198+26G= MANE Select | ENSP00000374467.4:n.4198+26G= | |
| ENST00000642271.1:c.4195+26G= | ENSP00000493749.1:n.4195+26G= | |
| ENST00000642579.1:c.2252+26G= | ||
| ENST00000642611.1:n.5309G= | ||
| ENST00000642902.1:c.3980+26G= | ||
| ENST00000643260.1:c.4198+26G= | ENSP00000494450.1:n.4198+26G= | |
| ENST00000643562.1:c.*2320+26G= | ENSP00000496124.1:n.*2320+26G= | |
| ENST00000643925.1:c.2838+26G= | ||
| ENST00000644057.1:n.275+26G= | ||
| ENST00000644484.1:c.*3584+26G= | ENSP00000493558.1:n.*3584+26G= | |
| ENST00000644675.1:c.*2370+26G= | ENSP00000494567.1:n.*2370+26G= | |
| ENST00000644757.1:c.*3202+438G= | ENSP00000495085.1:n.*3202+438G= | |
| ENST00000644772.1:c.4264+26G= | ENSP00000494321.1:n.4264+26G= | |
| ENST00000645004.1:n.1891+26G= | ||
| ENST00000645076.1:c.3397+26G= | ||
| ENST00000645417.1:c.1386+26G= | ||
| ENST00000645744.1:c.*3963+26G= | ENSP00000494564.1:n.*3963+26G= | |
| ENST00000645760.1:c.4619+26G= | ||
| ENST00000645884.1:c.*1481+26G= | ENSP00000495516.1:n.*1481+26G= | |
| ENST00000646003.1:c.*2300+26G= | ENSP00000495259.1:n.*2300+26G= | |
| ENST00000646207.1:c.*3035+26G= | ENSP00000495025.1:n.*3035+26G= | |
| ENST00000646276.1:c.*3602+26G= | ENSP00000496070.1:n.*3602+26G= | |
| ENST00000646592.1:c.3504+26G= | ||
| ENST00000646902.1:c.4165+26G= | ENSP00000494101.1:n.4165+26G= | |
| ENST00000646993.1:c.*2740+26G= | ENSP00000493720.1:n.*2740+26G= | |
| ENST00000647013.1:c.4204+26G= | ENSP00000496741.1:n.4204+26G= | |
| ENST00000647015.1:c.3949+26G= | ENSP00000495389.1:n.3949+26G= | |
| ENST00000647086.1:c.*3784+26G= | ENSP00000493677.1:n.*3784+26G= | |
| ENST00000647158.1:c.*2485+26G= | ENSP00000495744.1:n.*2485+26G= | |
| ENST00000302539.8:c.4201+26G= | ENSP00000303960.4:n.4201+26G= | |
| ENST00000389817.7:c.4198+26G= | ENSP00000374467.3:n.4198+26G= | |
| ENST00000525022.1:n.90G= | ||
| ENST00000526168.5:c.66+26G= | ||
| ENST00000531642.5:c.34+26G= | ||
| NM_000352.4:c.4198+26G= | NP_000343.2:n.4198+26G= | |
| NM_001287174.1:c.4201+26G= | NP_001274103.1:n.4201+26G= | |
| XM_011520331.1:c.4198+26G= | XP_011518633.1:n.4198+26G= | |
| XM_011520332.1:c.4201+26G= | XP_011518634.1:n.4201+26G= | |
| XM_011520333.1:c.2698+26G= | XP_011518635.1:n.2698+26G= | |
| XR_930890.1:n.4264+26G= | ||
| NM_001351295.1:c.4264+26G= | NP_001338224.1:n.4264+26G= | |
| NM_001351296.1:c.4198+26G= | NP_001338225.1:n.4198+26G= | |
| NM_001351297.1:c.4195+26G= | NP_001338226.1:n.4195+26G= | |
| NR_147094.1:n.4493+26G= | ||
| XM_017018197.2:c.4267+26G= | XP_016873686.1:n.4267+26G= | |
| XM_017018199.1:c.4264+26G= | XP_016873688.1:n.4264+26G= | |
| XM_017018201.2:c.4267+26G= | XP_016873690.1:n.4267+26G= | |
| XM_017018202.1:c.2764+26G= | XP_016873691.1:n.2764+26G= | |
| XM_017018204.1:c.2155+26G= | XP_016873693.1:n.2155+26G= | |
| XM_024448668.1:c.2566+26G= | XP_024304436.1:n.2566+26G= | |
| XR_001747945.2:n.4339+26G= | ||
| XR_001747946.2:n.4270+26G= | ||
| XR_002957189.1:n.5946G= | ||
| NM_000352.6:c.4198+26G= MANE Select | NP_000343.2:n.4198+26G= | |
| NM_001287174.2:c.4201+26G= | NP_001274103.1:n.4201+26G= | |
| NM_001351295.2:c.4264+26G= | NP_001338224.1:n.4264+26G= | |
| NM_001351296.2:c.4198+26G= | NP_001338225.1:n.4198+26G= | |
| NM_001351297.2:c.4195+26G= | NP_001338226.1:n.4195+26G= | |
| NR_147094.2:n.4493+26G= | ||
| NM_001287174.3:c.4201+26G= | NP_001274103.1:n.4201+26G= |