gnomAD v4:
Joint Max Group AF
2.8e-7 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508600_241508619del , CM000663.2:g.241508600_241508619del | GRCh38 |
| NC_000001.10:g.241671900_241671919del , CM000663.1:g.241671900_241671919del | GRCh37 |
| NC_000001.9:g.239738523_239738542del | NCBI36 |
| NG_012338.1:g.16136_16155del , LRG_504:g.16136_16155del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1225_1241+3del | ||
| ENST00000682162.1:c.751_767+3del | ||
| ENST00000682567.1:n.799_815+3del | ||
| ENST00000683521.1:c.722_738+3del | ||
| ENST00000684161.1:n.1937_1953+3del | ||
| ENST00000684483.1:c.*118_*134+3del | ||
| ENST00000366560.4:c.722_738+3del | ||
| ENST00000366560.3:c.722_738+3del | ||
| NM_000143.3:c.722_738+3del , LRG_504t1:c.722_738+3del | ||
| XM_011544132.1:c.494_510+3del | ||
| XM_011544132.2:c.494_510+3del | ||
| NM_000143.4:c.722_738+3del |