Linked Data
ClinVar Variation Id:
552515
ClinVar RCV Id:
RCV000667792
dbSNP Id:
rs1379392398
gnomAD v2:
8-143956690-C-CT
gnomAD v4:
8-142875274-C-CT
MyVariant Identifiers:
chr8:g.143956690_143956691insT (hg19)
chr8:g.142875275dup (hg38)
chr8:g.142875274_142875275insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875275dup , CM000670.2:g.142875275dup | GRCh38 |
| NC_000008.10:g.143956691dup , CM000670.1:g.143956691dup | GRCh37 |
| NC_000008.9:g.143953693dup | NCBI36 |
| NG_007954.1:g.9546dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.1159dup (CYP11B1) MANE Select | ENSP00000292427.5:p.Ser387LysfsTer? | |
| ENST00000292427.8:c.1159dup (CYP11B1) | ENSP00000292427.4:p.Ser387LysfsTer? | |
| ENST00000314111.4:n.1554dup (CYP11B1) | ||
| ENST00000377675.3:c.1372dup (CYP11B1) | ENSP00000366903.3:p.Ser458LysfsTer? | |
| ENST00000517471.5:c.1159dup (CYP11B1) | ENSP00000428043.1:p.Ser387LysfsTer? | |
| ENST00000519285.5:c.193dup (CYP11B1) | ENSP00000430144.1:p.Ser65LysfsTer? | |
| ENST00000522728.5:c.181+34050dup (GML) | ENSP00000430799.1:n.181+34050dup | |
| NM_000497.3:c.1159dup (CYP11B1) | NP_000488.3:p.Ser387LysfsTer? | |
| NM_001026213.1:c.1159dup (CYP11B1) | NP_001021384.1:p.Ser387LysfsTer? | |
| XM_011516870.1:c.1306dup (CYP11B1) | XP_011515172.1:p.Ser436LysfsTer? | |
| XM_011516871.1:c.1237dup (CYP11B1) | XP_011515173.1:p.Ser413LysfsTer? | |
| XM_011516872.1:c.1228dup (CYP11B1) | XP_011515174.1:p.Ser410LysfsTer? | |
| XM_011516873.1:c.1306dup (CYP11B1) | XP_011515175.1:p.Ser436LysfsTer? | |
| XM_011516874.1:c.1237dup (CYP11B1) | XP_011515176.1:p.Ser413LysfsTer? | |
| XM_011516875.1:c.1045dup (CYP11B1) | XP_011515177.1:p.Ser349LysfsTer? | |
| XM_011516876.1:c.1306dup (CYP11B1) | XP_011515178.1:p.Ser436LysfsTer? | |
| XM_011516970.1:c.214+34050dup (GML) | XP_011515272.1:n.214+34050dup | |
| NM_000497.4:c.1159dup (CYP11B1) MANE Select | NP_000488.3:p.Ser387LysfsTer? |