Linked Data
gnomAD v3:
20-41116028-T-TTTTTTTAATGATACGGCG
gnomAD v4:
20-41116028-T-TTTTTTTAATGATACGGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41116028_41116029insTTTTTTAATGATACGGCG , CM000682.2:g.41116028_41116029insTTTTTTAATGATACGGCG | GRCh38 |
| NC_000020.10:g.39744668_39744669insTTTTTTAATGATACGGCG , CM000682.1:g.39744668_39744669insTTTTTTAATGATACGGCG | GRCh37 |
| NC_000020.9:g.39178082_39178083insTTTTTTAATGATACGGCG | NCBI36 |
| NG_012262.1:g.92207_92208insTTTTTTAATGATACGGCG | |
| NG_012262.2:g.92207_92208insTTTTTTAATGATACGGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361337.3:c.1708-250_1708-249insTTTTTTAATGATACGGCG (TOP1) MANE Select | ENSP00000354522.2:n.1708-250_1708-249insTTTTTTAATGATACGGCG | |
| ENST00000680945.1:c.301-250_301-249insTTTTTTAATGATACGGCG (TOP1) | ENSP00000504935.1:n.301-250_301-249insTTTTTTAATGATACGGCG | |
| ENST00000681058.1:n.6494-250_6494-249insTTTTTTAATGATACGGCG (TOP1) | ||
| ENST00000681113.1:c.*1403-250_*1403-249insTTTTTTAATGATACGGCG (TOP1) | ENSP00000505788.1:n.*1403-250_*1403-249insTTTTTTAATGATACGGCG | |
| ENST00000681392.1:n.3016-250_3016-249insTTTTTTAATGATACGGCG (TOP1) | ||
| ENST00000681884.1:n.2970-250_2970-249insTTTTTTAATGATACGGCG (TOP1) | ||
| ENST00000361337.2:c.1708-250_1708-249insTTTTTTAATGATACGGCG (TOP1) | ENSP00000354522.2:n.1708-250_1708-249insTTTTTTAATGATACGGCG | |
| NM_003286.2:c.1708-250_1708-249insTTTTTTAATGATACGGCG (TOP1) | NP_003277.1:n.1708-250_1708-249insTTTTTTAATGATACGGCG | |
| NR_109889.1:n.711-14740_711-14739insCGCCGTATCATTAAAAAA (PLCG1-AS1) | ||
| XM_011529032.1:c.1204-250_1204-249insTTTTTTAATGATACGGCG (TOP1) | XP_011527334.1:n.1204-250_1204-249insTTTTTTAATGATACGGCG | |
| XM_011529033.1:c.970-250_970-249insTTTTTTAATGATACGGCG (TOP1) | XP_011527335.1:n.970-250_970-249insTTTTTTAATGATACGGCG | |
| NM_003286.3:c.1708-250_1708-249insTTTTTTAATGATACGGCG (TOP1) | NP_003277.1:n.1708-250_1708-249insTTTTTTAATGATACGGCG | |
| NM_003286.4:c.1708-250_1708-249insTTTTTTAATGATACGGCG (TOP1) MANE Select | NP_003277.1:n.1708-250_1708-249insTTTTTTAATGATACGGCG |