Linked Data
ClinVar Variation Id:
362119
dbSNP Id:
rs148110533
gnomAD v2:
8-143954650-CT-C
gnomAD v3:
8-142873234-CT-C
gnomAD v4:
8-142873234-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142873235del , CM000670.2:g.142873235del | GRCh38 |
| NC_000008.10:g.143954651del , CM000670.1:g.143954651del | GRCh37 |
| NC_000008.9:g.143951653del | NCBI36 |
| NG_007954.1:g.11586del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.*1138del (CYP11B1) MANE Select | ENSP00000292427.5:n.*1138del | |
| ENST00000314111.4:n.2847del (CYP11B1) | ||
| ENST00000519285.5:c.1684del (CYP11B1) | ENSP00000430144.1:n.1684del | |
| ENST00000522728.5:c.181+32010del (GML) | ENSP00000430799.1:n.181+32010del | |
| NM_000497.3:c.*1138del (CYP11B1) | NP_000488.3:n.*1138del | |
| NM_001026213.1:c.*1138del (CYP11B1) | NP_001021384.1:n.*1138del | |
| XM_011516870.1:c.*1040del (CYP11B1) | XP_011515172.1:n.*1040del | |
| XM_011516871.1:c.*1040del (CYP11B1) | XP_011515173.1:n.*1040del | |
| XM_011516872.1:c.*1040del (CYP11B1) | XP_011515174.1:n.*1040del | |
| XM_011516873.1:c.*1138del (CYP11B1) | XP_011515175.1:n.*1138del | |
| XM_011516874.1:c.*1138del (CYP11B1) | XP_011515176.1:n.*1138del | |
| XM_011516875.1:c.*1040del (CYP11B1) | XP_011515177.1:n.*1040del | |
| XM_011516876.1:c.*1138del (CYP11B1) | XP_011515178.1:n.*1138del | |
| XM_011516970.1:c.214+32010del (GML) | XP_011515272.1:n.214+32010del | |
| NM_000497.4:c.*1138del (CYP11B1) MANE Select | NP_000488.3:n.*1138del |