gnomAD v4:
Joint Max Group AF
9.2e-7 (NFE)
Exomes Max Group AF
9.9e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767480_28767515del , CM000676.2:g.28767480_28767515del | GRCh38 |
| NC_000014.8:g.29236686_29236721del , CM000676.1:g.29236686_29236721del | GRCh37 |
| NC_000014.7:g.28306437_28306472del | NCBI36 |
| NG_009367.1:g.5400_5435del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.201_236del | ENSP00000516406.1:p.Pro68_Pro79del | |
| ENST00000313071.7:c.201_236del MANE Select | ENSP00000339004.3:p.Pro68_Pro79del | |
| ENST00000313071.6:c.201_236del | ENSP00000339004.3:p.Pro68_Pro79del | |
| NM_005249.4:c.201_236del | NP_005240.3:p.Pro68_Pro79del | |
| NM_005249.5:c.201_236del MANE Select | NP_005240.3:p.Pro68_Pro79del |