Linked Data
ClinVar Variation Id:
551876
dbSNP Id:
rs764418169
gnomAD v2:
8-143960498-GGGCTCCAGGCTCATCCTGTGGGGATGCA-G
gnomAD v3:
8-142879082-GGGCTCCAGGCTCATCCTGTGGGGATGCA-G
gnomAD v4:
8-142879082-GGGCTCCAGGCTCATCCTGTGGGGATGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142879087_142879114del , CM000670.2:g.142879087_142879114del | GRCh38 |
| NC_000008.10:g.143960503_143960530del , CM000670.1:g.143960503_143960530del | GRCh37 |
| NC_000008.9:g.143957505_143957532del | NCBI36 |
| NG_007954.1:g.5711_5738del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.317_344del (CYP11B1) MANE Select | ENSP00000292427.5:p.Leu106ProfsTer18 | |
| ENST00000292427.8:c.317_344del (CYP11B1) | ENSP00000292427.4:p.Leu106ProfsTer18 | |
| ENST00000314111.4:n.350_377del (CYP11B1) | ||
| ENST00000377675.3:c.452_479del (CYP11B1) | ENSP00000366903.3:p.Leu151ProfsTer18 | |
| ENST00000517471.5:c.317_344del (CYP11B1) | ENSP00000428043.1:p.Leu106ProfsTer18 | |
| ENST00000522728.5:c.182-34876_182-34849del (GML) | ENSP00000430799.1:n.182-34876_182-34849del | |
| NM_000497.3:c.317_344del (CYP11B1) | NP_000488.3:p.Leu106ProfsTer18 | |
| NM_001026213.1:c.317_344del (CYP11B1) | NP_001021384.1:p.Leu106ProfsTer18 | |
| XM_011516870.1:c.317_344del (CYP11B1) | XP_011515172.1:p.Leu106ProfsTer18 | |
| XM_011516871.1:c.317_344del (CYP11B1) | XP_011515173.1:p.Leu106ProfsTer18 | |
| XM_011516872.1:c.317_344del (CYP11B1) | XP_011515174.1:p.Leu106ProfsTer18 | |
| XM_011516873.1:c.317_344del (CYP11B1) | XP_011515175.1:p.Leu106ProfsTer18 | |
| XM_011516874.1:c.317_344del (CYP11B1) | XP_011515176.1:p.Leu106ProfsTer18 | |
| XM_011516875.1:c.56_83del (CYP11B1) | XP_011515177.1:p.Leu19ProfsTer18 | |
| XM_011516876.1:c.317_344del (CYP11B1) | XP_011515178.1:p.Leu106ProfsTer18 | |
| XM_011516970.1:c.215-34876_215-34849del (GML) | XP_011515272.1:n.215-34876_215-34849del | |
| NM_000497.4:c.317_344del (CYP11B1) MANE Select | NP_000488.3:p.Leu106ProfsTer18 |