gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007324 (EAS)
Genomes Max Group AF
0.00006811 (EAS)
Exomes Max Group AF
0.00004955 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178286_24178287del , CM000668.2:g.24178286_24178287del | GRCh38 |
| NC_000006.11:g.24178514_24178515del , CM000668.1:g.24178514_24178515del | GRCh37 |
| NC_000006.10:g.24286493_24286494del | NCBI36 |
| NG_012829.1:g.184775_184776del | |
| NG_012829.2:g.210015_210016del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1326+52_1326+53del MANE Select | ENSP00000367715.3:n.1326+52_1326+53del | |
| ENST00000378450.6:c.585+52_585+53del | ENSP00000367711.3:n.585+52_585+53del | |
| ENST00000378454.7:c.1326+52_1326+53del | ENSP00000367715.3:n.1326+52_1326+53del | |
| NM_001195610.1:c.1326+52_1326+53del | NP_001182539.1:n.1326+52_1326+53del | |
| NM_016356.4:c.1326+52_1326+53del | NP_057440.2:n.1326+52_1326+53del | |
| NM_016356.5:c.1326+52_1326+53del MANE Select | NP_057440.2:n.1326+52_1326+53del | |
| NM_001195610.2:c.1326+52_1326+53del | NP_001182539.1:n.1326+52_1326+53del |