Linked Data
dbSNP Id:
rs201792963
gnomAD v2:
2-47709796-TAAA-T
gnomAD v3:
2-47482657-TAAA-T
gnomAD v4:
2-47482657-TAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47482665_47482667del , CM000664.2:g.47482665_47482667del | GRCh38 |
| NC_000002.11:g.47709804_47709806del , CM000664.1:g.47709804_47709806del | GRCh37 |
| NC_000002.10:g.47563308_47563310del | NCBI36 |
| NG_007110.2:g.84542_84544del , LRG_218:g.84542_84544del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2634+1794_2634+1796del | ENSP00000495641.2:n.2634+1794_2634+1796del | |
| ENST00000233146.7:c.2635-114_2635-112del MANE Select | ENSP00000233146.2:n.2635-114_2635-112del | |
| ENST00000543555.6:c.2437-114_2437-112del | ENSP00000442697.1:n.2437-114_2437-112del | |
| ENST00000644092.1:c.*934+1794_*934+1796del | ENSP00000496351.1:n.*934+1794_*934+1796del | |
| ENST00000644900.1:c.487+1794_487+1796del | ||
| ENST00000645339.1:c.2634+1794_2634+1796del | ENSP00000496441.1:n.2634+1794_2634+1796del | |
| ENST00000645506.1:c.2634+1794_2634+1796del | ENSP00000495455.1:n.2634+1794_2634+1796del | |
| ENST00000646415.1:c.2634+1794_2634+1796del | ENSP00000495543.1:n.2634+1794_2634+1796del | |
| ENST00000233146.6:c.2635-114_2635-112del | ENSP00000233146.2:n.2635-114_2635-112del | |
| ENST00000406134.5:c.2634+1794_2634+1796del | ENSP00000384199.1:n.2634+1794_2634+1796del | |
| ENST00000461394.5:n.75+1794_75+1796del | ||
| ENST00000543555.5:c.2437-114_2437-112del | ENSP00000442697.1:n.2437-114_2437-112del | |
| ENST00000610696.4:c.*1031-114_*1031-112del | ENSP00000483159.1:n.*1031-114_*1031-112del | |
| ENST00000613514.4:c.*1175-114_*1175-112del | ENSP00000484137.1:n.*1175-114_*1175-112del | |
| ENST00000617333.3:c.*1401-114_*1401-112del | ENSP00000482468.1:n.*1401-114_*1401-112del | |
| ENST00000617938.4:c.*1607-114_*1607-112del | ENSP00000481158.1:n.*1607-114_*1607-112del | |
| ENST00000621359.2:c.*201-114_*201-112del | ENSP00000481416.1:n.*201-114_*201-112del | |
| NM_000251.2:c.2635-114_2635-112del , LRG_218t1:c.2635-114_2635-112del | NP_000242.1:n.2635-114_2635-112del | |
| NM_001258281.1:c.2437-114_2437-112del | NP_001245210.1:n.2437-114_2437-112del | |
| XM_005264332.2:c.2634+1794_2634+1796del | XP_005264389.2:n.2634+1794_2634+1796del | |
| XM_011532867.1:c.2634+1794_2634+1796del | XP_011531169.1:n.2634+1794_2634+1796del | |
| XR_939685.1:n.2706+1794_2706+1796del | ||
| XM_005264332.4:c.2634+1794_2634+1796del | XP_005264389.2:n.2634+1794_2634+1796del | |
| XM_011532867.2:c.2634+1794_2634+1796del | XP_011531169.1:n.2634+1794_2634+1796del | |
| XR_001738747.2:n.2696+1794_2696+1796del | ||
| XR_939685.2:n.2696+1794_2696+1796del | ||
| NM_000251.3:c.2635-114_2635-112del MANE Select | NP_000242.1:n.2635-114_2635-112del |