Linked Data
dbSNP Id:
rs752735911
ExAC:
22:19956267 C / CG
gnomAD v2:
22-19956267-C-CG
gnomAD v3:
22-19968744-C-CG
gnomAD v4:
22-19968744-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19968744_19968745insG , CM000684.2:g.19968744_19968745insG | GRCh38 |
| NC_000022.10:g.19956267_19956268insG , CM000684.1:g.19956267_19956268insG | GRCh37 |
| NC_000022.9:g.18336267_18336268insG | NCBI36 |
| NG_011526.1:g.32005_32006insG | |
| NG_023326.1:g.53042_53043insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.*8_*9insG (COMT) MANE Select | ENSP00000354511.6:n.*8_*9insG | |
| ENST00000428707.2:c.*1317_*1318insG (COMT) | ENSP00000387695.2:n.*1317_*1318insG | |
| ENST00000676678.1:c.*8_*9insG (COMT) | ENSP00000503719.1:n.*8_*9insG | |
| ENST00000677397.1:c.*403_*404insG (COMT) | ENSP00000503422.1:n.*403_*404insG | |
| ENST00000677470.1:n.674_675insG (COMT) | ||
| ENST00000677564.1:n.607_608insG (COMT) | ||
| ENST00000677675.1:n.624_625insG (COMT) | ||
| ENST00000678255.1:c.*8_*9insG (COMT) | ENSP00000504402.1:n.*8_*9insG | |
| ENST00000678769.1:c.*8_*9insG (COMT) | ENSP00000503289.1:n.*8_*9insG | |
| ENST00000678868.1:c.*8_*9insG (COMT) | ENSP00000503583.1:n.*8_*9insG | |
| ENST00000678945.1:n.692_693insG (COMT) | ||
| ENST00000207636.9:c.*282_*283insG (COMT) | ENSP00000207636.5:n.*282_*283insG | |
| ENST00000361682.10:c.*8_*9insG (COMT) | ENSP00000354511.6:n.*8_*9insG | |
| ENST00000403710.5:c.*8_*9insG (COMT) | ENSP00000385917.1:n.*8_*9insG | |
| ENST00000406520.7:c.*8_*9insG (COMT) | ENSP00000385150.3:n.*8_*9insG | |
| ENST00000407537.5:c.*8_*9insG (COMT) | ENSP00000384654.2:n.*8_*9insG | |
| ENST00000449653.5:c.*8_*9insG (COMT) | ENSP00000416778.1:n.*8_*9insG | |
| NM_000754.3:c.*8_*9insG (COMT) | NP_000745.1:n.*8_*9insG | |
| NM_001135161.1:c.*8_*9insG (COMT) | NP_001128633.1:n.*8_*9insG | |
| NM_001135162.1:c.*8_*9insG (COMT) | NP_001128634.1:n.*8_*9insG | |
| NM_007310.2:c.*8_*9insG (COMT) | NP_009294.1:n.*8_*9insG | |
| XM_005261242.1:c.2764-1536_2764-1535insC (ARVCF) | XP_005261299.1:n.2764-1536_2764-1535insC | |
| XM_006724243.1:c.2782-1536_2782-1535insC (ARVCF) | XP_006724306.1:n.2782-1536_2782-1535insC | |
| XM_006724246.2:c.2536-1536_2536-1535insC (ARVCF) | XP_006724309.1:n.2536-1536_2536-1535insC | |
| XM_011529886.1:c.*8_*9insG (COMT) | XP_011528188.1:n.*8_*9insG | |
| XM_011530179.1:c.2749-1536_2749-1535insC (ARVCF) | XP_011528481.1:n.2749-1536_2749-1535insC | |
| XM_011530182.1:c.1348-1536_1348-1535insC (ARVCF) | XP_011528484.1:n.1348-1536_1348-1535insC | |
| NM_001362828.1:c.*8_*9insG (COMT) | NP_001349757.1:n.*8_*9insG | |
| XM_005261242.3:c.2764-1536_2764-1535insC (ARVCF) | XP_005261299.1:n.2764-1536_2764-1535insC | |
| XM_006724243.3:c.2782-1536_2782-1535insC (ARVCF) | XP_006724306.1:n.2782-1536_2782-1535insC | |
| XM_006724246.4:c.2536-1536_2536-1535insC (ARVCF) | XP_006724309.1:n.2536-1536_2536-1535insC | |
| XM_011529886.2:c.*8_*9insG (COMT) | XP_011528188.2:n.*8_*9insG | |
| XM_011530179.3:c.2749-1536_2749-1535insC (ARVCF) | XP_011528481.1:n.2749-1536_2749-1535insC | |
| XM_011530182.3:c.1348-1536_1348-1535insC (ARVCF) | XP_011528484.1:n.1348-1536_1348-1535insC | |
| XM_017028595.1:c.*8_*9insG (COMT) | XP_016884084.1:n.*8_*9insG | |
| XM_024452249.1:c.2536-1536_2536-1535insC (ARVCF) | XP_024308017.1:n.2536-1536_2536-1535insC | |
| NM_000754.4:c.*8_*9insG (COMT) MANE Select | NP_000745.1:n.*8_*9insG | |
| NM_001135161.2:c.*8_*9insG (COMT) | NP_001128633.1:n.*8_*9insG | |
| NM_001135162.2:c.*8_*9insG (COMT) | NP_001128634.1:n.*8_*9insG | |
| NM_001362828.2:c.*8_*9insG (COMT) | NP_001349757.1:n.*8_*9insG | |
| NM_007310.3:c.*8_*9insG (COMT) | NP_009294.1:n.*8_*9insG |