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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395684_17395750del , CM000673.2:g.17395684_17395750del | GRCh38 |
| NC_000011.9:g.17417231_17417297del , CM000673.1:g.17417231_17417297del | GRCh37 |
| NC_000011.8:g.17373807_17373873del | NCBI36 |
| NG_008867.1:g.86155_86221del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3800-30_3836del | ||
| ENST00000528374.2:c.790-30_826del | ||
| ENST00000529967.6:n.2538-30_2574del | ||
| ENST00000532220.2:n.3432-30_3468del | ||
| ENST00000642611.2:n.5502_5568del | ||
| ENST00000644057.2:n.745_811del | ||
| ENST00000645004.2:n.1698-30_1734del | ||
| ENST00000682051.1:n.4361-30_4397del | ||
| ENST00000682110.1:n.4414-30_4450del | ||
| ENST00000682140.1:c.4065-30_*21del | ||
| ENST00000682185.1:n.5504-30_5540del | ||
| ENST00000682204.1:c.*2337-30_*2373del | ||
| ENST00000682215.1:n.4781-30_4817del | ||
| ENST00000682288.1:c.*2630-30_*2666del | ||
| ENST00000682442.1:n.4634-30_4670del | ||
| ENST00000682528.1:n.4491-30_4527del | ||
| ENST00000682673.1:n.4358-30_4394del | ||
| ENST00000682805.1:n.4819-30_4855del | ||
| ENST00000682965.1:c.*621-30_*657del | ||
| ENST00000683093.1:n.5498-30_5534del | ||
| ENST00000683136.1:c.4082-30_4118del | ||
| ENST00000683153.1:n.4456-30_4492del | ||
| ENST00000683365.1:n.4516-30_4552del | ||
| ENST00000683377.1:n.4414-30_4450del | ||
| ENST00000683456.1:c.*1336-30_*1372del | ||
| ENST00000683522.1:n.4414-30_4450del | ||
| ENST00000683562.1:c.*2368-30_*2404del | ||
| ENST00000683693.1:n.5949_6015del | ||
| ENST00000683725.1:c.4199-30_4235del | ||
| ENST00000684010.1:n.4409-30_4445del | ||
| ENST00000684157.1:n.5399-30_5435del | ||
| ENST00000684253.1:n.4317-30_4353del | ||
| ENST00000684288.1:c.*2371-30_*2407del | ||
| ENST00000684313.1:n.3846-30_3882del | ||
| ENST00000684332.1:n.4487-30_4523del | ||
| ENST00000684371.1:n.4520-30_4556del | ||
| ENST00000684404.1:n.5442-30_5478del | ||
| ENST00000684442.1:n.4638-30_4674del | ||
| ENST00000684555.1:c.*2411-30_*2447del | ||
| ENST00000684571.1:c.4040-30_4076del | ||
| ENST00000684593.1:c.*3904-30_*3940del | ||
| ENST00000684711.1:c.*2595-30_*2631del | ||
| ENST00000302539.9:c.4202-30_4238del | ||
| ENST00000389817.8:c.4199-30_4235del | ||
| ENST00000642271.1:c.4196-30_4232del | ||
| ENST00000642579.1:c.2253-30_2289del | ||
| ENST00000642611.1:n.5387_5453del | ||
| ENST00000642902.1:c.3981-30_4017del | ||
| ENST00000643260.1:c.4199-30_4235del | ||
| ENST00000643562.1:c.*2321-30_*2357del | ||
| ENST00000643925.1:c.2839-30_2875del | ||
| ENST00000644057.1:n.276-30_312del | ||
| ENST00000644484.1:c.*3585-30_*3621del | ||
| ENST00000644675.1:c.*2371-30_*2407del | ||
| ENST00000644757.1:c.*3202+516_*3202+582del | ENSP00000495085.1:n.*3202+516_*3202+582del | |
| ENST00000644772.1:c.4265-30_4301del | ||
| ENST00000645004.1:n.1892-30_1928del | ||
| ENST00000645076.1:c.3398-30_3434del | ||
| ENST00000645417.1:c.1387-30_1423del | ||
| ENST00000645744.1:c.*3963+104_*3964-44del | ENSP00000494564.1:n.*3963+104_*3964-44del | |
| ENST00000645760.1:c.4620-30_4656del | ||
| ENST00000645884.1:c.*1482-30_*1518del | ||
| ENST00000646003.1:c.*2300+104_*2301-44del | ENSP00000495259.1:n.*2300+104_*2301-44del | |
| ENST00000646207.1:c.*3036-30_*3072del | ||
| ENST00000646276.1:c.*3603-30_*3639del | ||
| ENST00000646592.1:c.3505-30_3541del | ||
| ENST00000646902.1:c.4166-30_4202del | ||
| ENST00000646993.1:c.*2741-30_*2777del | ||
| ENST00000647013.1:c.4205-30_4241del | ||
| ENST00000647015.1:c.3950-30_3986del | ||
| ENST00000647086.1:c.*3785-30_*3821del | ||
| ENST00000647158.1:c.*2486-30_*2522del | ||
| ENST00000302539.8:c.4202-30_4238del | ||
| ENST00000389817.7:c.4199-30_4235del | ||
| ENST00000525022.1:n.168_234del | ||
| ENST00000526037.5:n.33_99del | ||
| ENST00000526168.5:c.66+104_67-44del | ||
| ENST00000531642.5:c.35-30_71del | ||
| NM_000352.4:c.4199-30_4235del | ||
| NM_001287174.1:c.4202-30_4238del | ||
| XM_011520331.1:c.4199-30_4235del | ||
| XM_011520332.1:c.4202-30_4238del | ||
| XM_011520333.1:c.2699-30_2735del | ||
| XR_930890.1:n.4265-30_4301del | ||
| NM_001351295.1:c.4265-30_4301del | ||
| NM_001351296.1:c.4199-30_4235del | ||
| NM_001351297.1:c.4196-30_4232del | ||
| NR_147094.1:n.4494-30_4530del | ||
| XM_017018197.2:c.4268-30_4304del | ||
| XM_017018199.1:c.4265-30_4301del | ||
| XM_017018201.2:c.4268-30_4304del | ||
| XM_017018202.1:c.2765-30_2801del | ||
| XM_017018204.1:c.2156-30_2192del | ||
| XM_024448668.1:c.2567-30_2603del | ||
| XR_001747945.2:n.4340-30_4376del | ||
| XR_001747946.2:n.4271-30_4307del | ||
| XR_002957189.1:n.6024_6090del | ||
| NM_000352.6:c.4199-30_4235del | ||
| NM_001287174.2:c.4202-30_4238del | ||
| NM_001351295.2:c.4265-30_4301del | ||
| NM_001351296.2:c.4199-30_4235del | ||
| NM_001351297.2:c.4196-30_4232del | ||
| NR_147094.2:n.4494-30_4530del | ||
| NM_001287174.3:c.4202-30_4238del |