Linked Data
dbSNP Id:
rs1472492117
gnomAD v2:
22-19956266-C-CA
gnomAD v3:
22-19968743-C-CA
gnomAD v4:
22-19968743-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19968743_19968744insA , CM000684.2:g.19968743_19968744insA | GRCh38 |
| NC_000022.10:g.19956266_19956267insA , CM000684.1:g.19956266_19956267insA | GRCh37 |
| NC_000022.9:g.18336266_18336267insA | NCBI36 |
| NG_011526.1:g.32004_32005insA | |
| NG_023326.1:g.53043_53044insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.*7_*8insA (COMT) MANE Select | ENSP00000354511.6:n.*7_*8insA | |
| ENST00000428707.2:c.*1316_*1317insA (COMT) | ENSP00000387695.2:n.*1316_*1317insA | |
| ENST00000676678.1:c.*7_*8insA (COMT) | ENSP00000503719.1:n.*7_*8insA | |
| ENST00000677397.1:c.*402_*403insA (COMT) | ENSP00000503422.1:n.*402_*403insA | |
| ENST00000677470.1:n.673_674insA (COMT) | ||
| ENST00000677564.1:n.606_607insA (COMT) | ||
| ENST00000677675.1:n.623_624insA (COMT) | ||
| ENST00000678255.1:c.*7_*8insA (COMT) | ENSP00000504402.1:n.*7_*8insA | |
| ENST00000678769.1:c.*7_*8insA (COMT) | ENSP00000503289.1:n.*7_*8insA | |
| ENST00000678868.1:c.*7_*8insA (COMT) | ENSP00000503583.1:n.*7_*8insA | |
| ENST00000678945.1:n.691_692insA (COMT) | ||
| ENST00000207636.9:c.*281_*282insA (COMT) | ENSP00000207636.5:n.*281_*282insA | |
| ENST00000361682.10:c.*7_*8insA (COMT) | ENSP00000354511.6:n.*7_*8insA | |
| ENST00000403710.5:c.*7_*8insA (COMT) | ENSP00000385917.1:n.*7_*8insA | |
| ENST00000406520.7:c.*7_*8insA (COMT) | ENSP00000385150.3:n.*7_*8insA | |
| ENST00000407537.5:c.*7_*8insA (COMT) | ENSP00000384654.2:n.*7_*8insA | |
| ENST00000449653.5:c.*7_*8insA (COMT) | ENSP00000416778.1:n.*7_*8insA | |
| NM_000754.3:c.*7_*8insA (COMT) | NP_000745.1:n.*7_*8insA | |
| NM_001135161.1:c.*7_*8insA (COMT) | NP_001128633.1:n.*7_*8insA | |
| NM_001135162.1:c.*7_*8insA (COMT) | NP_001128634.1:n.*7_*8insA | |
| NM_007310.2:c.*7_*8insA (COMT) | NP_009294.1:n.*7_*8insA | |
| XM_005261242.1:c.2764-1535_2764-1534insT (ARVCF) | XP_005261299.1:n.2764-1535_2764-1534insT | |
| XM_006724243.1:c.2782-1535_2782-1534insT (ARVCF) | XP_006724306.1:n.2782-1535_2782-1534insT | |
| XM_006724246.2:c.2536-1535_2536-1534insT (ARVCF) | XP_006724309.1:n.2536-1535_2536-1534insT | |
| XM_011529886.1:c.*7_*8insA (COMT) | XP_011528188.1:n.*7_*8insA | |
| XM_011530179.1:c.2749-1535_2749-1534insT (ARVCF) | XP_011528481.1:n.2749-1535_2749-1534insT | |
| XM_011530182.1:c.1348-1535_1348-1534insT (ARVCF) | XP_011528484.1:n.1348-1535_1348-1534insT | |
| NM_001362828.1:c.*7_*8insA (COMT) | NP_001349757.1:n.*7_*8insA | |
| XM_005261242.3:c.2764-1535_2764-1534insT (ARVCF) | XP_005261299.1:n.2764-1535_2764-1534insT | |
| XM_006724243.3:c.2782-1535_2782-1534insT (ARVCF) | XP_006724306.1:n.2782-1535_2782-1534insT | |
| XM_006724246.4:c.2536-1535_2536-1534insT (ARVCF) | XP_006724309.1:n.2536-1535_2536-1534insT | |
| XM_011529886.2:c.*7_*8insA (COMT) | XP_011528188.2:n.*7_*8insA | |
| XM_011530179.3:c.2749-1535_2749-1534insT (ARVCF) | XP_011528481.1:n.2749-1535_2749-1534insT | |
| XM_011530182.3:c.1348-1535_1348-1534insT (ARVCF) | XP_011528484.1:n.1348-1535_1348-1534insT | |
| XM_017028595.1:c.*7_*8insA (COMT) | XP_016884084.1:n.*7_*8insA | |
| XM_024452249.1:c.2536-1535_2536-1534insT (ARVCF) | XP_024308017.1:n.2536-1535_2536-1534insT | |
| NM_000754.4:c.*7_*8insA (COMT) MANE Select | NP_000745.1:n.*7_*8insA | |
| NM_001135161.2:c.*7_*8insA (COMT) | NP_001128633.1:n.*7_*8insA | |
| NM_001135162.2:c.*7_*8insA (COMT) | NP_001128634.1:n.*7_*8insA | |
| NM_001362828.2:c.*7_*8insA (COMT) | NP_001349757.1:n.*7_*8insA | |
| NM_007310.3:c.*7_*8insA (COMT) | NP_009294.1:n.*7_*8insA |