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_000005.10:g.78984789_78984942delinsTGGGGCGAGAAGCCGCCGGGACCCATAACTGGGTCGGCGGTCCGAGCCCCGCCTGCCAGCGCCCGCGGCCTCAAGGGCCGGGTAGGAGCGGCAGGGCGCCGGCGAAAGGCGGGGCGGGGGCGGCGCGGGCGGCGGGGGCGCCGCGTACCTGGTA , CM000667.2:g.78984789_78984942delinsTGGGGCGAGAAGCCGCCGGGACCCATAACTGGGTCGGCGGTCCGAGCCCCGCCTGCCAGCGCCCGCGGCCTCAAGGGCCGGGTAGGAGCGGCAGGGCGCCGGCGAAAGGCGGGGCGGGGGCGGCGCGGGCGGCGGGGGCGCCGCGTACCTGGTA | GRCh38 |
| NC_000005.9:g.78280612_78280765delinsTGGGGCGAGAAGCCGCCGGGACCCATAACTGGGTCGGCGGTCCGAGCCCCGCCTGCCAGCGCCCGCGGCCTCAAGGGCCGGGTAGGAGCGGCAGGGCGCCGGCGAAAGGCGGGGCGGGGGCGGCGCGGGCGGCGGGGGCGCCGCGTACCTGGTA , CM000667.1:g.78280612_78280765delinsTGGGGCGAGAAGCCGCCGGGACCCATAACTGGGTCGGCGGTCCGAGCCCCGCCTGCCAGCGCCCGCGGCCTCAAGGGCCGGGTAGGAGCGGCAGGGCGCCGGCGAAAGGCGGGGCGGGGGCGGCGCGGGCGGCGGGGGCGCCGCGTACCTGGTA | GRCh37 |
| NC_000005.8:g.78316368_78316521delinsTGGGGCGAGAAGCCGCCGGGACCCATAACTGGGTCGGCGGTCCGAGCCCCGCCTGCCAGCGCCCGCGGCCTCAAGGGCCGGGTAGGAGCGGCAGGGCGCCGGCGAAAGGCGGGGCGGGGGCGGCGCGGGCGGCGGGGGCGCCGCGTACCTGGTA | NCBI36 |
| NG_007089.1:g.6593_6746delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264914.10:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| ENST00000565165.2:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| ENST00000264914.8:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| ENST00000396151.7:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| ENST00000565165.1:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| NM_000046.3:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| NM_198709.2:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_005248506.3:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_006714615.2:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_011543390.1:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_011543391.1:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_011543392.1:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_011543393.1:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| NM_000046.4:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_011543391.3:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_011543392.3:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_011543393.2:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XM_017009471.2:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XR_001742065.2:n.378_383+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| XR_001742066.2:n.378_383+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| NM_000046.5:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA | ||
| NM_198709.3:c.307_312+148delinsTACCAGGTACGCGGCGCCCCCGCCGCCCGCGCCGCCCCCGCCCCGCCTTTCGCCGGCGCCCTGCCGCTCCTACCCGGCCCTTGAGGCCGCGGGCGCTGGCAGGCGGGGCTCGGACCGCCGACCCAGTTATGGGTCCCGGCGGCTTCTCGCCCCA |