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_000019.10:g.35032183_35032184insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC , CM000681.2:g.35032183_35032184insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | GRCh38 |
| NC_000019.9:g.35523087_35523088insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC , CM000681.1:g.35523087_35523088insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | GRCh37 |
| NC_000019.8:g.40214927_40214928insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | NCBI36 |
| NG_013359.1:g.6496_6497insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415950.5:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | ENSP00000396915.2:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACG... | |
| ENST00000262631.11:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC MANE Select | ENSP00000262631.3:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACG... | |
| ENST00000415950.4:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | ENSP00000396915.2:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACG... | |
| ENST00000596348.2:c.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | ENSP00000492247.1:n.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGA... | |
| ENST00000638536.1:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | ENSP00000492022.1:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACG... | |
| ENST00000640135.1:c.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | ENSP00000492655.1:n.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGA... | |
| ENST00000262631.9:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | ENSP00000262631.3:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACG... | |
| ENST00000415950.3:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | ENSP00000396915.2:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACG... | |
| ENST00000595652.5:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | ENSP00000468848.1:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACG... | |
| ENST00000596348.1:n.50-345_50-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | ||
| NM_001037.4:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | NP_001028.1:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCG... | |
| NM_199037.3:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | NP_950238.1:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCG... | |
| XM_005259144.1:c.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | XP_005259201.1:n.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGACGT... | |
| NM_001321605.1:c.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | NP_001308534.1:n.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGACGT... | |
| NM_199037.4:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | NP_950238.1:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCG... | |
| NM_001037.5:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC MANE Select | NP_001028.1:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCG... | |
| NM_001321605.2:c.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | NP_001308534.1:n.-59-345_-59-344insTGCGTCAGCGACGTAAAAAGCGACGT... | |
| NM_199037.5:c.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCGGGTACAGCAGATCGTTACCCCACGGGGTGGACCACAGGGCGACGCCCATGAGAAGGACTGCGACGACCGCAAGCATCACCAGCGTCCACCCGCGCGGGC | NP_950238.1:n.41-345_41-344insTGCGTCAGCGACGTAAAAAGCGACGTGATCG... |