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_000020.11:g.3228086_3228193delinsTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTG , CM000682.2:g.3228086_3228193delinsTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTG | GRCh38 |
| NC_000020.10:g.3208732_3208839delinsTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTG , CM000682.1:g.3208732_3208839delinsTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTG | GRCh37 |
| NC_000020.9:g.3156732_3156839delinsTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTG | NCBI36 |
| NG_017072.1:g.16049_16156delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | |
| NG_012093.2:g.24220_24327delinsTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642402.1:c.2558+66_2558+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA MANE Select | ENSP00000493503.1:n.2558+66_2558+173delin... | |
| ENST00000644011.1:c.2489+66_2489+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ENSP00000496214.1:n.2489+66_2489+173delin... | |
| ENST00000644692.1:c.2357+66_2357+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ENSP00000493824.1:n.2357+66_2357+173delin... | |
| ENST00000647296.1:c.2444+66_2444+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ENSP00000495050.1:n.2444+66_2444+173delin... | |
| ENST00000380056.7:c.2606+66_2606+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ENSP00000369396.3:n.2606+66_2606+173delin... | |
| ENST00000380059.7:c.2687+66_2687+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ENSP00000369399.3:n.2687+66_2687+173delin... | |
| ENST00000474451.5:c.*706+66_*706+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ENSP00000476859.1:n.*706+66_*706+173delin... | |
| ENST00000539553.6:c.2558+66_2558+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ENSP00000441370.1:n.2558+66_2558+173delin... | |
| NM_001174089.1:c.2558+66_2558+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_001167560.1:n.2558+66_2558+173delinsCA... | |
| NM_001174090.1:c.2687+66_2687+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_001167561.1:n.2687+66_2687+173delinsCA... | |
| NM_032034.3:c.2606+66_2606+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_114423.1:n.2606+66_2606+173delinsCAGCG... | |
| XM_005260856.3:c.2927+66_2927+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_005260913.1:n.2927+66_2927+173delinsCA... | |
| XM_005260857.1:c.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_005260914.1:n.2501+66_2501+173delinsCA... | |
| XM_011529383.1:c.2525+66_2525+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_011527685.1:n.2525+66_2525+173delinsCA... | |
| XM_011529384.1:c.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_011527686.1:n.2501+66_2501+173delinsCA... | |
| XM_011529385.1:c.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_011527687.1:n.2501+66_2501+173delinsCA... | |
| XR_937167.1:n.2656+66_2656+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ||
| NM_001363745.1:c.2444+66_2444+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_001350674.1:n.2444+66_2444+173delinsCA... | |
| NR_135000.1:n.2656+66_2656+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ||
| XM_005260856.5:c.2927+66_2927+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_005260913.1:n.2927+66_2927+173delinsCA... | |
| XM_011529383.3:c.2525+66_2525+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_011527685.1:n.2525+66_2525+173delinsCA... | |
| XM_017028093.1:c.2921+66_2921+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_016883582.1:n.2921+66_2921+173delinsCA... | |
| XM_017028094.1:c.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_016883583.1:n.2501+66_2501+173delinsCA... | |
| XM_017028096.1:c.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | XP_016883585.1:n.2501+66_2501+173delinsCA... | |
| XR_001754419.1:n.3101+66_3101+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ||
| XR_001754420.2:n.3081+66_3081+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ||
| NM_001174089.2:c.2558+66_2558+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA MANE Select | NP_001167560.1:n.2558+66_2558+173delinsCA... | |
| NM_001363745.2:c.2444+66_2444+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_001350674.1:n.2444+66_2444+173delinsCA... | |
| NM_001174090.2:c.2687+66_2687+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_001167561.1:n.2687+66_2687+173delinsCA... | |
| NM_032034.4:c.2606+66_2606+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_114423.1:n.2606+66_2606+173delinsCAGCG... | |
| NM_001400277.1:c.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_001387206.1:n.2501+66_2501+173delinsCA... | |
| NM_001400278.1:c.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_001387207.1:n.2501+66_2501+173delinsCA... | |
| NM_001400279.1:c.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_001387208.1:n.2501+66_2501+173delinsCA... | |
| NM_001400280.1:c.2573+66_2573+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | NP_001387209.1:n.2573+66_2573+173delinsCA... | |
| NR_174470.1:n.3081+66_3081+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | ||
| NR_174471.1:n.3066+66_3066+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA |