Linked Data
ClinVar Variation Id:
293916
ClinVar RCV Id:
RCV000333793
dbSNP Id:
rs769384071
gnomAD v2:
1-182352248-AAAT-A
gnomAD v3:
1-182383113-AAAT-A
gnomAD v4:
1-182383113-AAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182383117_182383119del , CM000663.2:g.182383117_182383119del | GRCh38 |
| NC_000001.10:g.182352252_182352254del , CM000663.1:g.182352252_182352254del | GRCh37 |
| NC_000001.9:g.180618875_180618877del | NCBI36 |
| NG_013347.2:g.14091_14093del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331872.11:c.*1289_*1291del MANE Select | ENSP00000356537.6:n.*1289_*1291del | |
| ENST00000642379.1:c.*1289_*1291del | ENSP00000494022.1:n.*1289_*1291del | |
| ENST00000311223.9:c.*1289_*1291del | ENSP00000307900.5:n.*1289_*1291del | |
| ENST00000331872.10:c.*1289_*1291del | ENSP00000356537.5:n.*1289_*1291del | |
| ENST00000339526.8:c.*1289_*1291del | ENSP00000344958.4:n.*1289_*1291del | |
| ENST00000417584.6:c.*1289_*1291del | ENSP00000398320.2:n.*1289_*1291del | |
| ENST00000491322.1:n.5910_5912del | ||
| NM_001033044.3:c.*1289_*1291del | NP_001028216.1:n.*1289_*1291del | |
| NM_001033056.3:c.*1289_*1291del | NP_001028228.1:n.*1289_*1291del | |
| NM_002065.6:c.*1289_*1291del | NP_002056.2:n.*1289_*1291del | |
| XM_006711278.1:c.*1289_*1291del | XP_006711341.1:n.*1289_*1291del | |
| XM_006711278.2:c.*1289_*1291del | XP_006711341.1:n.*1289_*1291del | |
| NM_001033044.4:c.*1289_*1291del MANE Select | NP_001028216.1:n.*1289_*1291del | |
| NM_001033056.4:c.*1289_*1291del | NP_001028228.1:n.*1289_*1291del | |
| NM_002065.7:c.*1289_*1291del | NP_002056.2:n.*1289_*1291del |