gnomAD v4:
Joint Max Group AF
0.00002068 (NFE)
Genomes Max Group AF
0.00002076 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1393785_1393824del , CM000667.2:g.1393785_1393824del | GRCh38 |
| NC_000005.9:g.1393900_1393939del , CM000667.1:g.1393900_1393939del | GRCh37 |
| NC_000005.8:g.1446900_1446939del | NCBI36 |
| NG_015885.1:g.56644_56683del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.*950_*989del MANE Select | ENSP00000270349.9:n.*950_*989del | |
| ENST00000270349.11:c.*950_*989del | ENSP00000270349.9:n.*950_*989del | |
| NM_001044.4:c.*950_*989del | NP_001035.1:n.*950_*989del | |
| NM_001044.5:c.*950_*989del MANE Select | NP_001035.1:n.*950_*989del |