Linked Data
dbSNP Id:
rs750361935
ExAC:
22:19956268 C / CA
gnomAD v2:
22-19956268-C-CA
gnomAD v4:
22-19968745-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19968745_19968746insA , CM000684.2:g.19968745_19968746insA | GRCh38 |
| NC_000022.10:g.19956268_19956269insA , CM000684.1:g.19956268_19956269insA | GRCh37 |
| NC_000022.9:g.18336268_18336269insA | NCBI36 |
| NG_011526.1:g.32006_32007insA | |
| NG_023326.1:g.53041_53042insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.*9_*10insA (COMT) MANE Select | ENSP00000354511.6:n.*9_*10insA | |
| ENST00000428707.2:c.*1318_*1319insA (COMT) | ENSP00000387695.2:n.*1318_*1319insA | |
| ENST00000676678.1:c.*9_*10insA (COMT) | ENSP00000503719.1:n.*9_*10insA | |
| ENST00000677397.1:c.*404_*405insA (COMT) | ENSP00000503422.1:n.*404_*405insA | |
| ENST00000677470.1:n.675_676insA (COMT) | ||
| ENST00000677564.1:n.608_609insA (COMT) | ||
| ENST00000677675.1:n.625_626insA (COMT) | ||
| ENST00000678255.1:c.*9_*10insA (COMT) | ENSP00000504402.1:n.*9_*10insA | |
| ENST00000678769.1:c.*9_*10insA (COMT) | ENSP00000503289.1:n.*9_*10insA | |
| ENST00000678868.1:c.*9_*10insA (COMT) | ENSP00000503583.1:n.*9_*10insA | |
| ENST00000678945.1:n.693_694insA (COMT) | ||
| ENST00000207636.9:c.*283_*284insA (COMT) | ENSP00000207636.5:n.*283_*284insA | |
| ENST00000361682.10:c.*9_*10insA (COMT) | ENSP00000354511.6:n.*9_*10insA | |
| ENST00000403710.5:c.*9_*10insA (COMT) | ENSP00000385917.1:n.*9_*10insA | |
| ENST00000406520.7:c.*9_*10insA (COMT) | ENSP00000385150.3:n.*9_*10insA | |
| ENST00000407537.5:c.*9_*10insA (COMT) | ENSP00000384654.2:n.*9_*10insA | |
| ENST00000449653.5:c.*9_*10insA (COMT) | ENSP00000416778.1:n.*9_*10insA | |
| NM_000754.3:c.*9_*10insA (COMT) | NP_000745.1:n.*9_*10insA | |
| NM_001135161.1:c.*9_*10insA (COMT) | NP_001128633.1:n.*9_*10insA | |
| NM_001135162.1:c.*9_*10insA (COMT) | NP_001128634.1:n.*9_*10insA | |
| NM_007310.2:c.*9_*10insA (COMT) | NP_009294.1:n.*9_*10insA | |
| XM_005261242.1:c.2764-1537_2764-1536insT (ARVCF) | XP_005261299.1:n.2764-1537_2764-1536insT | |
| XM_006724243.1:c.2782-1537_2782-1536insT (ARVCF) | XP_006724306.1:n.2782-1537_2782-1536insT | |
| XM_006724246.2:c.2536-1537_2536-1536insT (ARVCF) | XP_006724309.1:n.2536-1537_2536-1536insT | |
| XM_011529886.1:c.*9_*10insA (COMT) | XP_011528188.1:n.*9_*10insA | |
| XM_011530179.1:c.2749-1537_2749-1536insT (ARVCF) | XP_011528481.1:n.2749-1537_2749-1536insT | |
| XM_011530182.1:c.1348-1537_1348-1536insT (ARVCF) | XP_011528484.1:n.1348-1537_1348-1536insT | |
| NM_001362828.1:c.*9_*10insA (COMT) | NP_001349757.1:n.*9_*10insA | |
| XM_005261242.3:c.2764-1537_2764-1536insT (ARVCF) | XP_005261299.1:n.2764-1537_2764-1536insT | |
| XM_006724243.3:c.2782-1537_2782-1536insT (ARVCF) | XP_006724306.1:n.2782-1537_2782-1536insT | |
| XM_006724246.4:c.2536-1537_2536-1536insT (ARVCF) | XP_006724309.1:n.2536-1537_2536-1536insT | |
| XM_011529886.2:c.*9_*10insA (COMT) | XP_011528188.2:n.*9_*10insA | |
| XM_011530179.3:c.2749-1537_2749-1536insT (ARVCF) | XP_011528481.1:n.2749-1537_2749-1536insT | |
| XM_011530182.3:c.1348-1537_1348-1536insT (ARVCF) | XP_011528484.1:n.1348-1537_1348-1536insT | |
| XM_017028595.1:c.*9_*10insA (COMT) | XP_016884084.1:n.*9_*10insA | |
| XM_024452249.1:c.2536-1537_2536-1536insT (ARVCF) | XP_024308017.1:n.2536-1537_2536-1536insT | |
| NM_000754.4:c.*9_*10insA (COMT) MANE Select | NP_000745.1:n.*9_*10insA | |
| NM_001135161.2:c.*9_*10insA (COMT) | NP_001128633.1:n.*9_*10insA | |
| NM_001135162.2:c.*9_*10insA (COMT) | NP_001128634.1:n.*9_*10insA | |
| NM_001362828.2:c.*9_*10insA (COMT) | NP_001349757.1:n.*9_*10insA | |
| NM_007310.3:c.*9_*10insA (COMT) | NP_009294.1:n.*9_*10insA |