Linked Data
ClinVar Variation Id:
35979
dbSNP Id:
rs193922535
COSMIC:
COSM4997700
MyVariant Identifiers:
chr8:g.143957233_143957234delinsAT (hg19)
chr8:g.142875817_142875818delinsAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875817_142875818delinsAT , CM000670.2:g.142875817_142875818delinsAT | GRCh38 |
| NC_000008.10:g.143957233_143957234delinsAT , CM000670.1:g.143957233_143957234delinsAT | GRCh37 |
| NC_000008.9:g.143954235_143954236delinsAT | NCBI36 |
| NG_007954.1:g.9003_9004delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.1015_1016delinsAT (CYP11B1) MANE Select | ENSP00000292427.5:p.Ala339Ile | |
| ENST00000292427.8:c.1015_1016delinsAT (CYP11B1) | ENSP00000292427.4:p.Ala339Ile | |
| ENST00000314111.4:n.1410_1411delinsAT (CYP11B1) | ||
| ENST00000377675.3:c.1228_1229delinsAT (CYP11B1) | ENSP00000366903.3:p.Ala410Ile | |
| ENST00000517471.5:c.1015_1016delinsAT (CYP11B1) | ENSP00000428043.1:p.Ala339Ile | |
| ENST00000522728.5:c.181+34592_181+34593delinsAT (GML) | ENSP00000430799.1:n.181+34592_181+34593delinsAT | |
| NM_000497.3:c.1015_1016delinsAT (CYP11B1) | NP_000488.3:p.Ala339Ile | |
| NM_001026213.1:c.1015_1016delinsAT (CYP11B1) | NP_001021384.1:p.Ala339Ile | |
| XM_011516870.1:c.1093_1094delinsAT (CYP11B1) | XP_011515172.1:p.Ala365Ile | |
| XM_011516871.1:c.1093_1094delinsAT (CYP11B1) | XP_011515173.1:p.Ala365Ile | |
| XM_011516872.1:c.1015_1016delinsAT (CYP11B1) | XP_011515174.1:p.Ala339Ile | |
| XM_011516873.1:c.1093_1094delinsAT (CYP11B1) | XP_011515175.1:p.Ala365Ile | |
| XM_011516874.1:c.1093_1094delinsAT (CYP11B1) | XP_011515176.1:p.Ala365Ile | |
| XM_011516875.1:c.832_833delinsAT (CYP11B1) | XP_011515177.1:p.Ala278Ile | |
| XM_011516876.1:c.1093_1094delinsAT (CYP11B1) | XP_011515178.1:p.Ala365Ile | |
| XM_011516970.1:c.214+34592_214+34593delinsAT (GML) | XP_011515272.1:n.214+34592_214+34593delinsAT | |
| NM_000497.4:c.1015_1016delinsAT (CYP11B1) MANE Select | NP_000488.3:p.Ala339Ile |