Linked Data
dbSNP Id:
rs759852947
ExAC:
22:19956264 C / CA
gnomAD v2:
22-19956264-C-CA
gnomAD v3:
22-19968741-C-CA
gnomAD v4:
22-19968741-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19968741_19968742insA , CM000684.2:g.19968741_19968742insA | GRCh38 |
| NC_000022.10:g.19956264_19956265insA , CM000684.1:g.19956264_19956265insA | GRCh37 |
| NC_000022.9:g.18336264_18336265insA | NCBI36 |
| NG_011526.1:g.32002_32003insA | |
| NG_023326.1:g.53045_53046insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.*5_*6insA (COMT) MANE Select | ENSP00000354511.6:n.*5_*6insA | |
| ENST00000428707.2:c.*1314_*1315insA (COMT) | ENSP00000387695.2:n.*1314_*1315insA | |
| ENST00000676678.1:c.*5_*6insA (COMT) | ENSP00000503719.1:n.*5_*6insA | |
| ENST00000677397.1:c.*400_*401insA (COMT) | ENSP00000503422.1:n.*400_*401insA | |
| ENST00000677470.1:n.671_672insA (COMT) | ||
| ENST00000677564.1:n.604_605insA (COMT) | ||
| ENST00000677675.1:n.621_622insA (COMT) | ||
| ENST00000678255.1:c.*5_*6insA (COMT) | ENSP00000504402.1:n.*5_*6insA | |
| ENST00000678769.1:c.*5_*6insA (COMT) | ENSP00000503289.1:n.*5_*6insA | |
| ENST00000678868.1:c.*5_*6insA (COMT) | ENSP00000503583.1:n.*5_*6insA | |
| ENST00000678945.1:n.689_690insA (COMT) | ||
| ENST00000207636.9:c.*279_*280insA (COMT) | ENSP00000207636.5:n.*279_*280insA | |
| ENST00000361682.10:c.*5_*6insA (COMT) | ENSP00000354511.6:n.*5_*6insA | |
| ENST00000403710.5:c.*5_*6insA (COMT) | ENSP00000385917.1:n.*5_*6insA | |
| ENST00000406520.7:c.*5_*6insA (COMT) | ENSP00000385150.3:n.*5_*6insA | |
| ENST00000407537.5:c.*5_*6insA (COMT) | ENSP00000384654.2:n.*5_*6insA | |
| ENST00000449653.5:c.*5_*6insA (COMT) | ENSP00000416778.1:n.*5_*6insA | |
| NM_000754.3:c.*5_*6insA (COMT) | NP_000745.1:n.*5_*6insA | |
| NM_001135161.1:c.*5_*6insA (COMT) | NP_001128633.1:n.*5_*6insA | |
| NM_001135162.1:c.*5_*6insA (COMT) | NP_001128634.1:n.*5_*6insA | |
| NM_007310.2:c.*5_*6insA (COMT) | NP_009294.1:n.*5_*6insA | |
| XM_005261242.1:c.2764-1533_2764-1532insT (ARVCF) | XP_005261299.1:n.2764-1533_2764-1532insT | |
| XM_006724243.1:c.2782-1533_2782-1532insT (ARVCF) | XP_006724306.1:n.2782-1533_2782-1532insT | |
| XM_006724246.2:c.2536-1533_2536-1532insT (ARVCF) | XP_006724309.1:n.2536-1533_2536-1532insT | |
| XM_011529886.1:c.*5_*6insA (COMT) | XP_011528188.1:n.*5_*6insA | |
| XM_011530179.1:c.2749-1533_2749-1532insT (ARVCF) | XP_011528481.1:n.2749-1533_2749-1532insT | |
| XM_011530182.1:c.1348-1533_1348-1532insT (ARVCF) | XP_011528484.1:n.1348-1533_1348-1532insT | |
| NM_001362828.1:c.*5_*6insA (COMT) | NP_001349757.1:n.*5_*6insA | |
| XM_005261242.3:c.2764-1533_2764-1532insT (ARVCF) | XP_005261299.1:n.2764-1533_2764-1532insT | |
| XM_006724243.3:c.2782-1533_2782-1532insT (ARVCF) | XP_006724306.1:n.2782-1533_2782-1532insT | |
| XM_006724246.4:c.2536-1533_2536-1532insT (ARVCF) | XP_006724309.1:n.2536-1533_2536-1532insT | |
| XM_011529886.2:c.*5_*6insA (COMT) | XP_011528188.2:n.*5_*6insA | |
| XM_011530179.3:c.2749-1533_2749-1532insT (ARVCF) | XP_011528481.1:n.2749-1533_2749-1532insT | |
| XM_011530182.3:c.1348-1533_1348-1532insT (ARVCF) | XP_011528484.1:n.1348-1533_1348-1532insT | |
| XM_017028595.1:c.*5_*6insA (COMT) | XP_016884084.1:n.*5_*6insA | |
| XM_024452249.1:c.2536-1533_2536-1532insT (ARVCF) | XP_024308017.1:n.2536-1533_2536-1532insT | |
| NM_000754.4:c.*5_*6insA (COMT) MANE Select | NP_000745.1:n.*5_*6insA | |
| NM_001135161.2:c.*5_*6insA (COMT) | NP_001128633.1:n.*5_*6insA | |
| NM_001135162.2:c.*5_*6insA (COMT) | NP_001128634.1:n.*5_*6insA | |
| NM_001362828.2:c.*5_*6insA (COMT) | NP_001349757.1:n.*5_*6insA | |
| NM_007310.3:c.*5_*6insA (COMT) | NP_009294.1:n.*5_*6insA |