Linked Data
dbSNP Id:
rs1736726118
gnomAD v3:
4-186211686-C-CACACACAT
gnomAD v4:
4-186211686-C-CACACACAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186211693_186211694insTACACACA , CM000666.2:g.186211693_186211694insTACACACA | GRCh38 |
| NC_000004.11:g.187132847_187132848insTACACACA , CM000666.1:g.187132847_187132848insTACACACA | GRCh37 |
| NC_000004.10:g.187369841_187369842insTACACACA | NCBI36 |
| NG_007965.1:g.25174_25175insTACACACA | |
| NG_012095.2:g.7715_7716insTACACACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.*1052_*1053insTACACACA (CYP4V2) MANE Select | ENSP00000368079.4:n.*1052_*1053insTACACACA | |
| ENST00000502665.1:n.1865_1866insTACACACA (CYP4V2) | ||
| ENST00000507209.5:n.7328_7329insTACACACA (CYP4V2) | ||
| ENST00000511608.5:c.201+2421_201+2422insTACACACA (KLKB1) | ||
| NM_207352.3:c.*1052_*1053insTACACACA (CYP4V2) | NP_997235.3:n.*1052_*1053insTACACACA | |
| XM_005262935.2:c.*1052_*1053insTACACACA (CYP4V2) | XP_005262992.1:n.*1052_*1053insTACACACA | |
| XM_006714184.2:c.*1052_*1053insTACACACA (CYP4V2) | XP_006714247.1:n.*1052_*1053insTACACACA | |
| XM_011531931.1:c.-3016_-3015insTACACACA (KLKB1) | XP_011530233.1:n.-3016_-3015insTACACACA | |
| XM_011531932.1:c.-3266_-3265insTACACACA (KLKB1) | XP_011530234.1:n.-3266_-3265insTACACACA | |
| XM_011531933.1:c.-3080_-3079insTACACACA (KLKB1) | XP_011530235.1:n.-3080_-3079insTACACACA | |
| XM_005262935.4:c.*1052_*1053insTACACACA (CYP4V2) | XP_005262992.1:n.*1052_*1053insTACACACA | |
| XM_017008037.1:c.*1052_*1053insTACACACA (CYP4V2) | XP_016863526.1:n.*1052_*1053insTACACACA | |
| NM_207352.4:c.*1052_*1053insTACACACA (CYP4V2) MANE Select | NP_997235.3:n.*1052_*1053insTACACACA |