Linked Data
dbSNP Id:
rs1187394666
gnomAD v2:
6-32008980-TC-T
gnomAD v3:
6-32041203-TC-T
gnomAD v4:
6-32041203-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041209del , CM000668.2:g.32041209del | GRCh38 |
| NC_000006.11:g.32008986del , CM000668.1:g.32008986del | GRCh37 |
| NC_000006.10:g.32116965del | NCBI36 |
| NG_007941.2:g.7902del | |
| NG_008337.2:g.73171del | |
| NG_007941.3:g.7905del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.*75del (CYP21A2) MANE Select | ENSP00000496625.1:n.*75del | |
| ENST00000644971.2:c.*145del (TNXB) MANE Select | ENSP00000496448.1:n.*145del | |
| ENST00000647633.1:c.*145del (TNXB) | ENSP00000497649.1:n.*145del | |
| ENST00000375244.7:c.*145del (TNXB) | ENSP00000364393.3:n.*145del | |
| ENST00000418967.6:c.*75del (CYP21A2) | ENSP00000408860.2:n.*75del | |
| ENST00000435122.3:c.*75del (CYP21A2) | ENSP00000415043.2:n.*75del | |
| ENST00000451343.4:c.*145del (TNXB) | ENSP00000407685.1:n.*145del | |
| ENST00000479074.5:n.1704del (CYP21A2) | ||
| ENST00000479730.5:n.1679del (CYP21A2) | ||
| ENST00000486063.5:n.1542del (CYP21A2) | ||
| ENST00000490077.5:n.2707del (TNXB) | ||
| ENST00000611016.2:c.6034del (TNXB) | ENSP00000483409.1:n.6034del | |
| NM_000500.7:c.*75del (CYP21A2) | NP_000491.4:n.*75del | |
| NM_001128590.3:c.*75del (CYP21A2) | NP_001122062.3:n.*75del | |
| NM_019105.6:c.*145del (TNXB) | NP_061978.6:n.*145del | |
| NM_032470.3:c.*145del (TNXB) | NP_115859.2:n.*145del | |
| XM_011514314.1:c.*75del (CYP21A2) | XP_011512616.1:n.*75del | |
| NM_000500.9:c.*75del (CYP21A2) MANE Select | NP_000491.4:n.*75del | |
| NM_001365276.1:c.*145del (TNXB) | NP_001352205.1:n.*145del | |
| NM_019105.7:c.*145del (TNXB) | NP_061978.6:n.*145del | |
| NM_001365276.2:c.*145del (TNXB) MANE Select | NP_001352205.1:n.*145del | |
| NM_001368143.1:c.*75del (CYP21A2) | NP_001355072.1:n.*75del | |
| NM_001368144.1:c.*75del (CYP21A2) | NP_001355073.1:n.*75del | |
| NM_019105.8:c.*145del (TNXB) | NP_061978.6:n.*145del | |
| NM_001128590.4:c.*75del (CYP21A2) | NP_001122062.3:n.*75del | |
| NM_001368143.2:c.*75del (CYP21A2) | NP_001355072.1:n.*75del | |
| NM_001368144.2:c.*75del (CYP21A2) | NP_001355073.1:n.*75del | |
| NM_032470.4:c.*145del (TNXB) | NP_115859.2:n.*145del |