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.17527070_17527160delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT , CM000673.2:g.17527070_17527160delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | GRCh38 |
| NC_000011.9:g.17548617_17548707delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT , CM000673.1:g.17548617_17548707delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | GRCh37 |
| NC_000011.8:g.17505193_17505283delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | NCBI36 |
| NG_011883.1:g.22257_22347delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | |
| NG_011883.2:g.22257_22347delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000005226.12:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT MANE Select | ENSP00000005226.7:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTG... | |
| ENST00000318024.9:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT MANE Plus Clinical | ENSP00000317018.4:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTG... | |
| ENST00000005226.11:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ENSP00000005226.7:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTG... | |
| ENST00000318024.8:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ENSP00000317018.4:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTG... | |
| ENST00000526181.1:c.529+63_530-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ENSP00000437128.1:n.529+63_530-30delinsAGGGCAGTACTCCATGACGGTG... | |
| ENST00000526313.5:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ENSP00000432236.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTG... | |
| ENST00000527020.5:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ENSP00000436934.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTG... | |
| ENST00000527720.5:c.403+63_404-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ENSP00000432944.1:n.403+63_404-30delinsAGGGCAGTACTCCATGACGGTG... | |
| NM_001297764.1:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | NP_001284693.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| NM_005709.3:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | NP_005700.2:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGG... | |
| NM_153676.3:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | NP_710142.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGG... | |
| NR_123738.1:n.605+63_606-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ||
| XM_011519831.1:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_011518133.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XM_011519832.1:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_011518134.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XM_011519833.1:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_011518135.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XM_011519834.1:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_011518136.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XR_930841.1:n.605+63_606-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ||
| XR_930842.1:n.605+63_606-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ||
| XM_011519832.3:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_011518134.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XM_011519834.2:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_011518136.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XM_017017072.1:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_016872561.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XM_017017073.1:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_016872562.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XM_017017074.1:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_016872563.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XM_017017075.1:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | XP_016872564.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| XR_001747717.2:n.605+63_606-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | ||
| NM_153676.4:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT MANE Select | NP_710142.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGG... | |
| NM_001297764.2:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | NP_001284693.1:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGA... | |
| NM_005709.4:c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT MANE Plus Clinical | NP_005700.2:n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGG... | |
| NR_123738.2:n.605+63_606-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT |