Linked Data
ClinVar Variation Id:
333118
ClinVar RCV Id:
RCV000312682
dbSNP Id:
rs200554257
gnomAD v2:
2-189898205-GTT-G
gnomAD v3:
2-189033479-GTT-G
gnomAD v4:
2-189033479-GTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189033491_189033492del , CM000664.2:g.189033491_189033492del | GRCh38 |
| NC_000002.11:g.189898217_189898218del , CM000664.1:g.189898217_189898218del | GRCh37 |
| NC_000002.10:g.189606462_189606463del | NCBI36 |
| NG_011799.1:g.151399_151400del | |
| NG_011799.2:g.151399_151400del | |
| NG_011799.3:g.196821_196822del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.*589_*590del MANE Select | ENSP00000364000.3:n.*589_*590del | |
| ENST00000374866.7:c.*589_*590del | ENSP00000364000.3:n.*589_*590del | |
| ENST00000618828.1:c.*589_*590del | ENSP00000482184.1:n.*589_*590del | |
| NM_000393.3:c.*589_*590del | NP_000384.2:n.*589_*590del | |
| XM_011510573.1:c.*589_*590del | XP_011508875.1:n.*589_*590del | |
| NM_000393.4:c.*589_*590del | NP_000384.2:n.*589_*590del | |
| XM_011510573.3:c.*589_*590del | XP_011508875.1:n.*589_*590del | |
| NM_000393.5:c.*589_*590del MANE Select | NP_000384.2:n.*589_*590del |