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_000002.12:g.178618087_178618120delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG , CM000664.2:g.178618087_178618120delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG | GRCh38 |
| NC_000002.11:g.179482814_179482847delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG , CM000664.1:g.179482814_179482847delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG | GRCh37 |
| NC_000002.10:g.179191059_179191092delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG | NCBI36 |
| NG_011618.3:g.217683_217716delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA , LRG_391:g.217683_217716delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA | |
| NG_051363.1:g.100261_100294delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.39566-39_39566-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | ENSP00000343764.6:n.39566-39_39566-6delinsCCCCAAACTCATATTTTCT... | |
| ENST00000342175.11:c.20651-39_20651-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | ENSP00000340554.6:n.20651-39_20651-6delinsCCCCAAACTCATATTTTCT... | |
| ENST00000359218.10:c.20450-39_20450-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | ENSP00000352154.5:n.20450-39_20450-6delinsCCCCAAACTCATATTTTCT... | |
| ENST00000342175.10:c.20651-39_20651-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | ENSP00000340554.6:n.20651-39_20651-6delinsCCCCAAACTCATATTTTCT... | |
| ENST00000342992.10:c.39566-39_39566-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | ENSP00000343764.6:n.39566-39_39566-6delinsCCCCAAACTCATATTTTCT... | |
| ENST00000359218.9:c.20450-39_20450-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | ENSP00000352154.5:n.20450-39_20450-6delinsCCCCAAACTCATATTTTCT... | |
| ENST00000460472.6:c.20075-39_20075-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | ENSP00000434586.1:n.20075-39_20075-6delinsCCCCAAACTCATATTTTCT... | |
| ENST00000589042.5:c.47270-39_47270-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) MANE Select | ENSP00000467141.1:n.47270-39_47270-6delinsCCCCAAACTCATATTTTCT... | |
| ENST00000591111.5:c.42347-39_42347-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | ENSP00000465570.1:n.42347-39_42347-6delinsCCCCAAACTCATATTTTCT... | |
| ENST00000615779.4:c.42347-39_42347-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | ENSP00000483597.1:n.42347-39_42347-6delinsCCCCAAACTCATATTTTCT... | |
| NM_001256850.1:c.42347-39_42347-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | NP_001243779.1:n.42347-39_42347-6delinsCCCCAAACTCATATTTTCTTCT... | |
| NM_001267550.2:c.47270-39_47270-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) MANE Select | NP_001254479.2:n.47270-39_47270-6delinsCCCCAAACTCATATTTTCTTCT... | |
| NM_003319.4:c.20075-39_20075-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | NP_003310.4:n.20075-39_20075-6delinsCCCCAAACTCATATTTTCTTCTTCT... | |
| NM_133378.4:c.39566-39_39566-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | NP_596869.4:n.39566-39_39566-6delinsCCCCAAACTCATATTTTCTTCTTCT... | |
| NM_133432.3:c.20450-39_20450-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | NP_597676.3:n.20450-39_20450-6delinsCCCCAAACTCATATTTTCTTCTTCT... | |
| NM_133437.4:c.20651-39_20651-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | NP_597681.4:n.20651-39_20651-6delinsCCCCAAACTCATATTTTCTTCTTCT... | |
| NR_038271.1:n.1605-1666_1605-1633delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG (TTN-AS1) | ||
| XM_011511729.1:c.46367-39_46367-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_011510031.1:n.46367-39_46367-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_011511730.1:c.20261-39_20261-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_011510032.1:n.20261-39_20261-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_011511731.1:c.20120-39_20120-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_011510033.1:n.20120-39_20120-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_017004819.1:c.46163-39_46163-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_016860308.1:n.46163-39_46163-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_017004820.1:c.41561-39_41561-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_016860309.1:n.41561-39_41561-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_017004821.1:c.41558-39_41558-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_016860310.1:n.41558-39_41558-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_017004822.1:c.38600-39_38600-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_016860311.1:n.38600-39_38600-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_017004823.1:c.20216-39_20216-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_016860312.1:n.20216-39_20216-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_024453094.1:c.41711-39_41711-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_024308862.1:n.41711-39_41711-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_024453095.1:c.41708-39_41708-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_024308863.1:n.41708-39_41708-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_024453096.1:c.41141-39_41141-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_024308864.1:n.41141-39_41141-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_024453097.1:c.38483-39_38483-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_024308865.1:n.38483-39_38483-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_024453098.1:c.38402-39_38402-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_024308866.1:n.38402-39_38402-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_024453099.1:c.20165-39_20165-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_024308867.1:n.20165-39_20165-6delinsCCCCAAACTCATATTTTCTTCT... | |
| XM_024453100.1:c.10019-39_10019-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (TTN) | XP_024308868.1:n.10019-39_10019-6delinsCCCCAAACTCATATTTTCTTCT... |