Linked Data
dbSNP Id:
rs1948536008
gnomAD v3:
12-13561017-CCACCCTGTGTAGG-C
gnomAD v4:
12-13561017-CCACCCTGTGTAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13561018_13561030del , CM000674.2:g.13561018_13561030del | GRCh38 |
| NC_000012.11:g.13713952_13713964del , CM000674.1:g.13713952_13713964del | GRCh37 |
| NC_000012.10:g.13605219_13605231del | NCBI36 |
| NG_031854.1:g.424059_424071del | |
| NG_031854.2:g.425983_425995del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.*1753_*1765del MANE Select | ENSP00000477455.1:n.*1753_*1765del | |
| ENST00000637214.1:c.69+47573_69+47585del | ENSP00000489997.1:n.69+47573_69+47585del | |
| ENST00000609686.3:c.*1753_*1765del | ENSP00000477455.1:n.*1753_*1765del | |
| XM_005253351.2:c.*1753_*1765del | XP_005253408.1:n.*1753_*1765del | |
| XM_011520628.1:c.*1753_*1765del | XP_011518930.1:n.*1753_*1765del | |
| XM_011520629.1:c.*1753_*1765del | XP_011518931.1:n.*1753_*1765del | |
| XM_011520630.1:c.*1753_*1765del | XP_011518932.1:n.*1753_*1765del | |
| NM_000834.4:c.*1753_*1765del | NP_000825.2:n.*1753_*1765del | |
| XM_005253351.3:c.*1753_*1765del | XP_005253408.1:n.*1753_*1765del | |
| XM_011520628.2:c.*1753_*1765del | XP_011518930.1:n.*1753_*1765del | |
| XM_011520629.2:c.*1753_*1765del | XP_011518931.1:n.*1753_*1765del | |
| XM_017019219.2:c.*1753_*1765del | XP_016874708.1:n.*1753_*1765del | |
| NM_000834.5:c.*1753_*1765del MANE Select | NP_000825.2:n.*1753_*1765del |