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_000016.10:g.16155036_16155037insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGCACCACCACAGTCAACAAATACCGTGTCAAGCGCGGCGA , CM000678.2:g.16155036_16155037insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGCACCACCACAGTCAACAAATACCGTGTCAAGCGCGGCGA | GRCh38 |
| NC_000016.9:g.16248893_16248894insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGCACCACCACAGTCAACAAATACCGTGTCAAGCGCGGCGA , CM000678.1:g.16248893_16248894insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGCACCACCACAGTCAACAAATACCGTGTCAAGCGCGGCGA | GRCh37 |
| NC_000016.8:g.16156394_16156395insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGCACCACCACAGTCAACAAATACCGTGTCAAGCGCGGCGA | NCBI36 |
| NG_007558.2:g.73435_73436insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | |
| NG_007558.3:g.73581_73582insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.740_741insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ||
| ENST00000622290.5:c.*55-6_*55-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ENSP00000483331.2:n.*55-6_*55-5insTCGCCGC... | |
| ENST00000205557.12:c.3883-6_3883-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC MANE Select | ENSP00000205557.7:n.3883-6_3883-5insTCGCC... | |
| ENST00000640696.1:c.697-6_697-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ENSP00000492197.1:n.697-6_697-5insTCGCCGC... | |
| ENST00000205557.11:c.3883-6_3883-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ENSP00000205557.7:n.3883-6_3883-5insTCGCC... | |
| ENST00000456970.6:c.3508-6_3508-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ENSP00000405002.2:n.3508-6_3508-5insTCGCC... | |
| ENST00000576204.5:n.740_741insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ||
| ENST00000622290.4:c.*1092-6_*1092-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ENSP00000483331.1:n.*1092-6_*1092-5insTCG... | |
| NM_001171.5:c.3883-6_3883-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | NP_001162.4:n.3883-6_3883-5insTCGCCGCGCTT... | |
| XM_011522479.1:c.3850-6_3850-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | XP_011520781.1:n.3850-6_3850-5insTCGCCGCG... | |
| XM_011522480.1:c.3541-6_3541-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | XP_011520782.1:n.3541-6_3541-5insTCGCCGCG... | |
| XM_011522481.1:c.3541-6_3541-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | XP_011520783.1:n.3541-6_3541-5insTCGCCGCG... | |
| XR_932836.1:n.4181-6_4181-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ||
| XR_932837.1:n.3919-6_3919-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ||
| XR_932838.1:n.3982-6_3982-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ||
| XR_933134.1:n.539-4745_539-4744insGTCCGGTCTGAACATTACCAACGGCAAAAAACTCTACCCCGTCAGCGGCATGACCAAAGTCGGCAGCGAAAACTACAAAATCGGCGGCGGCACCACCACAGTCAACAAATACCGTGTCAAGCGCGGCGA | ||
| NM_001351800.1:c.3541-6_3541-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | NP_001338729.1:n.3541-6_3541-5insTCGCCGCG... | |
| NR_147784.1:n.3545-6_3545-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ||
| XM_011522479.2:c.3850-6_3850-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | XP_011520781.1:n.3850-6_3850-5insTCGCCGCG... | |
| XM_011522481.3:c.3541-6_3541-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | XP_011520783.1:n.3541-6_3541-5insTCGCCGCG... | |
| XM_017023212.1:c.3715-6_3715-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | XP_016878701.1:n.3715-6_3715-5insTCGCCGCG... | |
| XM_024450261.1:c.3919-6_3919-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | XP_024306029.1:n.3919-6_3919-5insTCGCCGCG... | |
| XR_932836.2:n.4127-6_4127-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ||
| XR_932837.3:n.3864-6_3864-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ||
| XR_932838.3:n.3927-6_3927-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC | ||
| NM_001171.6:c.3883-6_3883-5insTCGCCGCGCTTGACACGGTATTTGTTGACTGTGGTGGTGCCGCCGCCGATTTTGTAGTTTTCGCTGCCGACTTTGGTCATGCCGCTGACGGGGTAGAGTTTTTTGCCGTTGGTAATGTTCAGACCGGAC MANE Select | NP_001162.5:n.3883-6_3883-5insTCGCCGCGCTT... |