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.17395743_17395744delinsAG , CM000673.2:g.17395743_17395744delinsAG | GRCh38 |
| NC_000011.9:g.17417290_17417291delinsAG , CM000673.1:g.17417290_17417291delinsAG | GRCh37 |
| NC_000011.8:g.17373866_17373867delinsAG | NCBI36 |
| NG_008867.1:g.86159_86160delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3800-26_3800-25delinsCT | ||
| ENST00000528374.2:c.790-26_790-25delinsCT | ||
| ENST00000529967.6:n.2538-26_2538-25delinsCT | ||
| ENST00000532220.2:n.3432-26_3432-25delinsCT | ||
| ENST00000642611.2:n.5506_5507delinsCT | ||
| ENST00000644057.2:n.749_750delinsCT | ||
| ENST00000645004.2:n.1698-26_1698-25delinsCT | ||
| ENST00000682051.1:n.4361-26_4361-25delinsCT | ||
| ENST00000682110.1:n.4414-26_4414-25delinsCT | ||
| ENST00000682140.1:c.4065-26_4065-25delinsCT | ENSP00000507829.1:n.4065-26_4065-25delins... | |
| ENST00000682185.1:n.5504-26_5504-25delinsCT | ||
| ENST00000682204.1:c.*2337-26_*2337-25delinsCT | ENSP00000507094.1:n.*2337-26_*2337-25deli... | |
| ENST00000682215.1:n.4781-26_4781-25delinsCT | ||
| ENST00000682288.1:c.*2630-26_*2630-25delinsCT | ENSP00000507506.1:n.*2630-26_*2630-25deli... | |
| ENST00000682442.1:n.4634-26_4634-25delinsCT | ||
| ENST00000682528.1:n.4491-26_4491-25delinsCT | ||
| ENST00000682673.1:n.4358-26_4358-25delinsCT | ||
| ENST00000682805.1:n.4819-26_4819-25delinsCT | ||
| ENST00000682965.1:c.*621-26_*621-25delinsCT | ENSP00000508229.1:n.*621-26_*621-25delins... | |
| ENST00000683093.1:n.5498-26_5498-25delinsCT | ||
| ENST00000683136.1:c.4082-26_4082-25delinsCT | ENSP00000507768.1:n.4082-26_4082-25delins... | |
| ENST00000683153.1:n.4456-26_4456-25delinsCT | ||
| ENST00000683365.1:n.4516-26_4516-25delinsCT | ||
| ENST00000683377.1:n.4414-26_4414-25delinsCT | ||
| ENST00000683456.1:c.*1336-26_*1336-25delinsCT | ENSP00000508318.1:n.*1336-26_*1336-25deli... | |
| ENST00000683522.1:n.4414-26_4414-25delinsCT | ||
| ENST00000683562.1:c.*2368-26_*2368-25delinsCT | ENSP00000508265.1:n.*2368-26_*2368-25deli... | |
| ENST00000683693.1:n.5953_5954delinsCT | ||
| ENST00000683725.1:c.4199-26_4199-25delinsCT | ENSP00000507496.1:n.4199-26_4199-25delins... | |
| ENST00000684010.1:n.4409-26_4409-25delinsCT | ||
| ENST00000684157.1:n.5399-26_5399-25delinsCT | ||
| ENST00000684253.1:n.4317-26_4317-25delinsCT | ||
| ENST00000684288.1:c.*2371-26_*2371-25delinsCT | ENSP00000507143.1:n.*2371-26_*2371-25deli... | |
| ENST00000684313.1:n.3846-26_3846-25delinsCT | ||
| ENST00000684332.1:n.4487-26_4487-25delinsCT | ||
| ENST00000684371.1:n.4520-26_4520-25delinsCT | ||
| ENST00000684404.1:n.5442-26_5442-25delinsCT | ||
| ENST00000684442.1:n.4638-26_4638-25delinsCT | ||
| ENST00000684555.1:c.*2411-26_*2411-25delinsCT | ENSP00000507705.1:n.*2411-26_*2411-25deli... | |
| ENST00000684571.1:c.4040-26_4040-25delinsCT | ENSP00000506935.1:n.4040-26_4040-25delins... | |
| ENST00000684593.1:c.*3904-26_*3904-25delinsCT | ENSP00000507005.1:n.*3904-26_*3904-25deli... | |
| ENST00000684711.1:c.*2595-26_*2595-25delinsCT | ENSP00000506841.1:n.*2595-26_*2595-25deli... | |
| ENST00000302539.9:c.4202-26_4202-25delinsCT | ENSP00000303960.4:n.4202-26_4202-25delins... | |
| ENST00000389817.8:c.4199-26_4199-25delinsCT MANE Select | ENSP00000374467.4:n.4199-26_4199-25delins... | |
| ENST00000642271.1:c.4196-26_4196-25delinsCT | ENSP00000493749.1:n.4196-26_4196-25delins... | |
| ENST00000642579.1:c.2253-26_2253-25delinsCT | ||
| ENST00000642611.1:n.5391_5392delinsCT | ||
| ENST00000642902.1:c.3981-26_3981-25delinsCT | ||
| ENST00000643260.1:c.4199-26_4199-25delinsCT | ENSP00000494450.1:n.4199-26_4199-25delins... | |
| ENST00000643562.1:c.*2321-26_*2321-25delinsCT | ENSP00000496124.1:n.*2321-26_*2321-25deli... | |
| ENST00000643925.1:c.2839-26_2839-25delinsCT | ||
| ENST00000644057.1:n.276-26_276-25delinsCT | ||
| ENST00000644484.1:c.*3585-26_*3585-25delinsCT | ENSP00000493558.1:n.*3585-26_*3585-25deli... | |
| ENST00000644675.1:c.*2371-26_*2371-25delinsCT | ENSP00000494567.1:n.*2371-26_*2371-25deli... | |
| ENST00000644757.1:c.*3202+520_*3202+521delinsCT | ENSP00000495085.1:n.*3202+520_*3202+521de... | |
| ENST00000644772.1:c.4265-26_4265-25delinsCT | ENSP00000494321.1:n.4265-26_4265-25delins... | |
| ENST00000645004.1:n.1892-26_1892-25delinsCT | ||
| ENST00000645076.1:c.3398-26_3398-25delinsCT | ||
| ENST00000645417.1:c.1387-26_1387-25delinsCT | ||
| ENST00000645744.1:c.*3964-106_*3964-105delinsCT | ENSP00000494564.1:n.*3964-106_*3964-105de... | |
| ENST00000645760.1:c.4620-26_4620-25delinsCT | ||
| ENST00000645884.1:c.*1482-26_*1482-25delinsCT | ENSP00000495516.1:n.*1482-26_*1482-25deli... | |
| ENST00000646003.1:c.*2301-106_*2301-105delinsCT | ENSP00000495259.1:n.*2301-106_*2301-105de... | |
| ENST00000646207.1:c.*3036-26_*3036-25delinsCT | ENSP00000495025.1:n.*3036-26_*3036-25deli... | |
| ENST00000646276.1:c.*3603-26_*3603-25delinsCT | ENSP00000496070.1:n.*3603-26_*3603-25deli... | |
| ENST00000646592.1:c.3505-26_3505-25delinsCT | ||
| ENST00000646902.1:c.4166-26_4166-25delinsCT | ENSP00000494101.1:n.4166-26_4166-25delins... | |
| ENST00000646993.1:c.*2741-26_*2741-25delinsCT | ENSP00000493720.1:n.*2741-26_*2741-25deli... | |
| ENST00000647013.1:c.4205-26_4205-25delinsCT | ENSP00000496741.1:n.4205-26_4205-25delins... | |
| ENST00000647015.1:c.3950-26_3950-25delinsCT | ENSP00000495389.1:n.3950-26_3950-25delins... | |
| ENST00000647086.1:c.*3785-26_*3785-25delinsCT | ENSP00000493677.1:n.*3785-26_*3785-25deli... | |
| ENST00000647158.1:c.*2486-26_*2486-25delinsCT | ENSP00000495744.1:n.*2486-26_*2486-25deli... | |
| ENST00000302539.8:c.4202-26_4202-25delinsCT | ENSP00000303960.4:n.4202-26_4202-25delins... | |
| ENST00000389817.7:c.4199-26_4199-25delinsCT | ENSP00000374467.3:n.4199-26_4199-25delins... | |
| ENST00000525022.1:n.172_173delinsCT | ||
| ENST00000526037.5:n.37_38delinsCT | ||
| ENST00000526168.5:c.67-106_67-105delinsCT | ||
| ENST00000531642.5:c.35-26_35-25delinsCT | ||
| NM_000352.4:c.4199-26_4199-25delinsCT | NP_000343.2:n.4199-26_4199-25delinsCT | |
| NM_001287174.1:c.4202-26_4202-25delinsCT | NP_001274103.1:n.4202-26_4202-25delinsCT | |
| XM_011520331.1:c.4199-26_4199-25delinsCT | XP_011518633.1:n.4199-26_4199-25delinsCT | |
| XM_011520332.1:c.4202-26_4202-25delinsCT | XP_011518634.1:n.4202-26_4202-25delinsCT | |
| XM_011520333.1:c.2699-26_2699-25delinsCT | XP_011518635.1:n.2699-26_2699-25delinsCT | |
| XR_930890.1:n.4265-26_4265-25delinsCT | ||
| NM_001351295.1:c.4265-26_4265-25delinsCT | NP_001338224.1:n.4265-26_4265-25delinsCT | |
| NM_001351296.1:c.4199-26_4199-25delinsCT | NP_001338225.1:n.4199-26_4199-25delinsCT | |
| NM_001351297.1:c.4196-26_4196-25delinsCT | NP_001338226.1:n.4196-26_4196-25delinsCT | |
| NR_147094.1:n.4494-26_4494-25delinsCT | ||
| XM_017018197.2:c.4268-26_4268-25delinsCT | XP_016873686.1:n.4268-26_4268-25delinsCT | |
| XM_017018199.1:c.4265-26_4265-25delinsCT | XP_016873688.1:n.4265-26_4265-25delinsCT | |
| XM_017018201.2:c.4268-26_4268-25delinsCT | XP_016873690.1:n.4268-26_4268-25delinsCT | |
| XM_017018202.1:c.2765-26_2765-25delinsCT | XP_016873691.1:n.2765-26_2765-25delinsCT | |
| XM_017018204.1:c.2156-26_2156-25delinsCT | XP_016873693.1:n.2156-26_2156-25delinsCT | |
| XM_024448668.1:c.2567-26_2567-25delinsCT | XP_024304436.1:n.2567-26_2567-25delinsCT | |
| XR_001747945.2:n.4340-26_4340-25delinsCT | ||
| XR_001747946.2:n.4271-26_4271-25delinsCT | ||
| XR_002957189.1:n.6028_6029delinsCT | ||
| NM_000352.6:c.4199-26_4199-25delinsCT MANE Select | NP_000343.2:n.4199-26_4199-25delinsCT | |
| NM_001287174.2:c.4202-26_4202-25delinsCT | NP_001274103.1:n.4202-26_4202-25delinsCT | |
| NM_001351295.2:c.4265-26_4265-25delinsCT | NP_001338224.1:n.4265-26_4265-25delinsCT | |
| NM_001351296.2:c.4199-26_4199-25delinsCT | NP_001338225.1:n.4199-26_4199-25delinsCT | |
| NM_001351297.2:c.4196-26_4196-25delinsCT | NP_001338226.1:n.4196-26_4196-25delinsCT | |
| NR_147094.2:n.4494-26_4494-25delinsCT | ||
| NM_001287174.3:c.4202-26_4202-25delinsCT | NP_001274103.1:n.4202-26_4202-25delinsCT |