Linked Data
dbSNP Id:
rs965777280
gnomAD v2:
8-143957057-T-TGCCAC
gnomAD v3:
8-142875641-T-TGCCAC
gnomAD v4:
8-142875641-T-TGCCAC
MyVariant Identifiers:
chr8:g.143957057_143957058insGCCAC (hg19)
chr8:g.142875641_142875642insGCCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875642_142875646dup , CM000670.2:g.142875642_142875646dup | GRCh38 |
| NC_000008.10:g.143957058_143957062dup , CM000670.1:g.143957058_143957062dup | GRCh37 |
| NC_000008.9:g.143954060_143954064dup | NCBI36 |
| NG_007954.1:g.9175_9179dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292427.10:c.1121+66_1121+70dup (CYP11B1) MANE Select | ENSP00000292427.5:n.1121+66_1121+70dup | |
| ENST00000292427.8:c.1121+66_1121+70dup (CYP11B1) | ENSP00000292427.4:n.1121+66_1121+70dup | |
| ENST00000314111.4:n.1516+66_1516+70dup (CYP11B1) | ||
| ENST00000377675.3:c.1334+66_1334+70dup (CYP11B1) | ENSP00000366903.3:n.1334+66_1334+70dup | |
| ENST00000517471.5:c.1121+66_1121+70dup (CYP11B1) | ENSP00000428043.1:n.1121+66_1121+70dup | |
| ENST00000519285.5:c.86+66_86+70dup (CYP11B1) | ENSP00000430144.1:n.86+66_86+70dup | |
| ENST00000522728.5:c.181+34417_181+34421dup (GML) | ENSP00000430799.1:n.181+34417_181+34421du... | |
| NM_000497.3:c.1121+66_1121+70dup (CYP11B1) | NP_000488.3:n.1121+66_1121+70dup | |
| NM_001026213.1:c.1121+66_1121+70dup (CYP11B1) | NP_001021384.1:n.1121+66_1121+70dup | |
| XM_011516870.1:c.1199+66_1199+70dup (CYP11B1) | XP_011515172.1:n.1199+66_1199+70dup | |
| XM_011516871.1:c.1199+66_1199+70dup (CYP11B1) | XP_011515173.1:n.1199+66_1199+70dup | |
| XM_011516872.1:c.1121+66_1121+70dup (CYP11B1) | XP_011515174.1:n.1121+66_1121+70dup | |
| XM_011516873.1:c.1199+66_1199+70dup (CYP11B1) | XP_011515175.1:n.1199+66_1199+70dup | |
| XM_011516874.1:c.1199+66_1199+70dup (CYP11B1) | XP_011515176.1:n.1199+66_1199+70dup | |
| XM_011516875.1:c.938+66_938+70dup (CYP11B1) | XP_011515177.1:n.938+66_938+70dup | |
| XM_011516876.1:c.1199+66_1199+70dup (CYP11B1) | XP_011515178.1:n.1199+66_1199+70dup | |
| XM_011516970.1:c.214+34417_214+34421dup (GML) | XP_011515272.1:n.214+34417_214+34421dup | |
| NM_000497.4:c.1121+66_1121+70dup (CYP11B1) MANE Select | NP_000488.3:n.1121+66_1121+70dup |