Linked Data
ClinVar Variation Id:
8156
dbSNP Id:
rs886037615
gnomAD v4:
2-73957140-CTG-C
PubMed:
PMID:12205643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73957142_73957143del , CM000664.2:g.73957142_73957143del | GRCh38 |
| NC_000002.11:g.74184269_74184270del , CM000664.1:g.74184269_74184270del | GRCh37 |
| NC_000002.10:g.74037777_74037778del | NCBI36 |
| NG_008044.1:g.35317_35318del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.609_610del MANE Select | ENSP00000264093.4:p.Tyr204ProfsTer11 | |
| ENST00000264093.8:c.609_610del | ENSP00000264093.4:p.Tyr204ProfsTer11 | |
| ENST00000348222.3:c.444-1004_444-1003del | ENSP00000306964.3:n.444-1004_444-1003del | |
| ENST00000418996.5:c.*61-1004_*61-1003del | ENSP00000408209.1:n.*61-1004_*61-1003del | |
| ENST00000462685.1:n.537-1004_537-1003del | ||
| ENST00000489796.5:n.593-1004_593-1003del | ||
| ENST00000629438.2:c.*226_*227del | ENSP00000487122.1:n.*226_*227del | |
| NM_080916.2:c.609_610del | NP_550438.1:p.Tyr204ProfsTer11 | |
| NM_080918.2:c.444-1004_444-1003del | NP_550440.1:n.444-1004_444-1003del | |
| XM_005264173.2:c.318_319del | XP_005264230.1:p.Tyr107ProfsTer11 | |
| XM_005264174.1:c.318_319del | XP_005264231.1:p.Tyr107ProfsTer11 | |
| XM_011532647.1:c.591_592del | XP_011530949.1:p.Tyr198ProfsTer11 | |
| XM_011532648.1:c.300_301del | XP_011530950.1:p.Tyr101ProfsTer11 | |
| XR_244926.2:n.673-1004_673-1003del | ||
| NM_001318859.1:c.426-1004_426-1003del | NP_001305788.1:n.426-1004_426-1003del | |
| NM_001318860.1:c.318_319del | NP_001305789.1:p.Tyr107ProfsTer11 | |
| NM_001318861.1:c.318_319del | NP_001305790.1:p.Tyr107ProfsTer11 | |
| NM_001318862.1:c.300_301del | NP_001305791.1:p.Tyr101ProfsTer11 | |
| NM_001318863.1:c.300_301del | NP_001305792.1:p.Tyr101ProfsTer11 | |
| NR_134893.1:n.416-1004_416-1003del | ||
| NR_134894.1:n.564-1004_564-1003del | ||
| NR_134895.1:n.228-1004_228-1003del | ||
| NR_134896.1:n.398-1004_398-1003del | ||
| NR_134897.1:n.608-1004_608-1003del | ||
| NR_134898.1:n.433_434del | ||
| XM_011532647.2:c.591_592del | XP_011530949.1:p.Tyr198ProfsTer11 | |
| XM_024452739.1:c.318_319del | XP_024308507.1:p.Tyr107ProfsTer11 | |
| XR_001738656.1:n.545_546del | ||
| XR_244926.3:n.675-1004_675-1003del | ||
| NM_080916.3:c.609_610del MANE Select | NP_550438.1:p.Tyr204ProfsTer11 | |
| NM_001318859.2:c.426-1004_426-1003del | NP_001305788.1:n.426-1004_426-1003del | |
| NM_001318860.2:c.318_319del | NP_001305789.1:p.Tyr107ProfsTer11 | |
| NM_001318861.2:c.318_319del | NP_001305790.1:p.Tyr107ProfsTer11 | |
| NM_001318862.2:c.300_301del | NP_001305791.1:p.Tyr101ProfsTer11 | |
| NM_001318863.2:c.300_301del | NP_001305792.1:p.Tyr101ProfsTer11 | |
| NM_080918.3:c.444-1004_444-1003del | NP_550440.1:n.444-1004_444-1003del | |
| NR_134893.2:n.362-1004_362-1003del | ||
| NR_134894.2:n.510-1004_510-1003del | ||
| NR_134895.2:n.174-1004_174-1003del | ||
| NR_134896.2:n.344-1004_344-1003del | ||
| NR_134897.2:n.554-1004_554-1003del | ||
| NR_134898.2:n.379_380del |