Linked Data
dbSNP Id:
rs776183482
ExAC:
3:52327218 CAG / C
gnomAD v2:
3-52327218-CAG-C
gnomAD v3:
3-52293202-CAG-C
gnomAD v4:
3-52293202-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293203_52293204del , CM000665.2:g.52293203_52293204del | GRCh38 |
| NC_000003.11:g.52327219_52327220del , CM000665.1:g.52327219_52327220del | GRCh37 |
| NC_000003.10:g.52302259_52302260del | NCBI36 |
| NG_023246.1:g.10384_10385del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.*77_*78del MANE Select | ENSP00000389175.2:n.*77_*78del | |
| ENST00000436784.6:c.*77_*78del | ENSP00000389175.2:n.*77_*78del | |
| ENST00000471180.5:c.*58+11_*58+12del | ENSP00000417526.1:n.*58+11_*58+12del | |
| ENST00000473032.5:c.*58+11_*58+12del | ENSP00000418951.1:n.*58+11_*58+12del | |
| ENST00000486393.5:c.*1012_*1013del | ENSP00000419868.1:n.*1012_*1013del | |
| ENST00000489173.1:n.1914+29_1914+30del | ||
| NM_145262.3:c.*77_*78del | NP_660305.2:n.*77_*78del | |
| NR_026699.1:n.1747_1748del | ||
| NR_026700.1:n.842+11_842+12del | ||
| NR_026701.1:n.1734+11_1734+12del | ||
| NR_026702.1:n.772+11_772+12del | ||
| XM_005264878.2:c.*768_*769del | XP_005264935.1:n.*768_*769del | |
| XR_245095.2:n.2889+11_2889+12del | ||
| XM_017005730.1:c.*77_*78del | XP_016861219.1:n.*77_*78del | |
| XM_024453351.1:c.*77_*78del | XP_024309119.1:n.*77_*78del | |
| XM_024453352.1:c.*768_*769del | XP_024309120.1:n.*768_*769del | |
| XR_001740022.2:n.3540+11_3540+12del | ||
| XR_001740023.2:n.3064+11_3064+12del | ||
| XR_245095.4:n.2890+11_2890+12del | ||
| NM_145262.4:c.*77_*78del MANE Select | NP_660305.2:n.*77_*78del | |
| NR_026699.2:n.1739_1740del | ||
| NR_026700.2:n.834+11_834+12del | ||
| NR_026701.2:n.1726+11_1726+12del | ||
| NR_026702.2:n.764+11_764+12del | ||
| NM_001144951.2:c.*768_*769del | NP_001138423.1:n.*768_*769del |