gnomAD v4:
Joint Max Group AF
0.00000119 (NFE)
Exomes Max Group AF
0.00000128 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013542_25013554del , CM000685.2:g.25013542_25013554del | GRCh38 |
| NC_000023.10:g.25031659_25031671del , CM000685.1:g.25031659_25031671del | GRCh37 |
| NC_000023.9:g.24941580_24941592del | NCBI36 |
| NG_008281.1:g.7395_7407del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.441_453del MANE Select | ENSP00000368332.4:p.Ala148ProfsTer16 | |
| ENST00000379044.4:c.441_453del | ENSP00000368332.4:p.Ala148ProfsTer16 | |
| NM_139058.2:c.441_453del | NP_620689.1:p.Ala148ProfsTer16 | |
| NM_139058.3:c.441_453del MANE Select | NP_620689.1:p.Ala148ProfsTer16 |