ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142915122_142915123delinsTC , CM000670.2:g.142915122_142915123delinsTC | GRCh38 |
| NC_000008.10:g.143996538_143996539delinsTC , CM000670.1:g.143996538_143996539delinsTC | GRCh37 |
| NC_000008.9:g.143993540_143993541delinsTC | NCBI36 |
| NG_008374.1:g.7721_7722delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.518_519delinsGA (CYP11B2) MANE Select | ENSP00000325822.2:p.Lys173Arg | |
| ENST00000522728.5:c.264+1077_264+1078delinsTC (GML) | ENSP00000430799.1:n.264+1077_264+1078delinsTC | |
| NM_000498.3:c.518_519delinsGA (CYP11B2) MANE Select | NP_000489.3:p.Lys173Arg | |
| XM_011516877.1:c.596_597delinsGA (CYP11B2) | XP_011515179.1:p.Lys199Arg | |
| XM_011516878.1:c.596_597delinsGA (CYP11B2) | XP_011515180.1:p.Lys199Arg | |
| XM_011516879.1:c.518_519delinsGA (CYP11B2) | XP_011515181.1:p.Lys173Arg | |
| XM_011516970.1:c.297+1077_297+1078delinsTC (GML) | XP_011515272.1:n.297+1077_297+1078delinsTC |