Linked Data
dbSNP Id:
rs1198175161
gnomAD v2:
12-13714180-CAG-C
gnomAD v3:
12-13561246-CAG-C
gnomAD v4:
12-13561246-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13561247_13561248del , CM000674.2:g.13561247_13561248del | GRCh38 |
| NC_000012.11:g.13714181_13714182del , CM000674.1:g.13714181_13714182del | GRCh37 |
| NC_000012.10:g.13605448_13605449del | NCBI36 |
| NG_031854.1:g.423841_423842del | |
| NG_031854.2:g.425765_425766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.*1535_*1536del MANE Select | ENSP00000477455.1:n.*1535_*1536del | |
| ENST00000637214.1:c.69+47355_69+47356del | ENSP00000489997.1:n.69+47355_69+47356del | |
| ENST00000609686.3:c.*1535_*1536del | ENSP00000477455.1:n.*1535_*1536del | |
| XM_005253351.2:c.*1535_*1536del | XP_005253408.1:n.*1535_*1536del | |
| XM_011520628.1:c.*1535_*1536del | XP_011518930.1:n.*1535_*1536del | |
| XM_011520629.1:c.*1535_*1536del | XP_011518931.1:n.*1535_*1536del | |
| XM_011520630.1:c.*1535_*1536del | XP_011518932.1:n.*1535_*1536del | |
| NM_000834.4:c.*1535_*1536del | NP_000825.2:n.*1535_*1536del | |
| XM_005253351.3:c.*1535_*1536del | XP_005253408.1:n.*1535_*1536del | |
| XM_011520628.2:c.*1535_*1536del | XP_011518930.1:n.*1535_*1536del | |
| XM_011520629.2:c.*1535_*1536del | XP_011518931.1:n.*1535_*1536del | |
| XM_017019219.2:c.*1535_*1536del | XP_016874708.1:n.*1535_*1536del | |
| NM_000834.5:c.*1535_*1536del MANE Select | NP_000825.2:n.*1535_*1536del |