gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000445 (AFR)
Genomes Max Group AF
0.00000804 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585219_67585222del , CM000673.2:g.67585219_67585222del | GRCh38 |
| NC_000011.9:g.67352690_67352693del , CM000673.1:g.67352690_67352693del | GRCh37 |
| NC_000011.8:g.67109266_67109269del | NCBI36 |
| NG_012075.1:g.6625_6628del , LRG_723:g.6625_6628del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.314_317del | ENSP00000381604.1:p.Ile105ThrfsTer20 | |
| ENST00000398606.10:c.314_317del MANE Select | ENSP00000381607.3:p.Ile105ThrfsTer15 | |
| ENST00000646888.1:c.*30_*33del | ENSP00000494477.1:n.*30_*33del | |
| ENST00000398603.5:c.314_317del | ENSP00000381604.1:p.Ile105ThrfsTer20 | |
| ENST00000398606.7:c.314_317del | ENSP00000381607.3:p.Ile105ThrfsTer15 | |
| ENST00000467591.1:n.425_428del | ||
| ENST00000494593.1:n.1109_1112del | ||
| ENST00000498765.5:c.377_380del | ||
| NM_000852.3:c.314_317del , LRG_723t1:c.314_317del | NP_000843.1:p.Ile105ThrfsTer15 | |
| NM_000852.4:c.314_317del MANE Select | NP_000843.1:p.Ile105ThrfsTer15 |