gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000256 (NFE)
Exomes Max Group AF
0.0000274 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94490961_94490972del , CM000673.2:g.94490961_94490972del | GRCh38 |
| NC_000011.9:g.94224127_94224138del , CM000673.1:g.94224127_94224138del | GRCh37 |
| NC_000011.8:g.93863775_93863786del | NCBI36 |
| NG_007261.1:g.7904_7915del , LRG_85:g.7904_7915del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.21-6_26del | ||
| ENST00000323929.7:c.21-6_26del | ||
| ENST00000323977.7:c.21-6_26del | ||
| ENST00000393241.8:c.21-6_26del | ||
| ENST00000407439.7:c.30-6_35del | ||
| ENST00000536144.1:n.256-6_261del | ||
| ENST00000536754.5:c.21-6_26del | ||
| ENST00000538923.1:c.21-6_26del | ||
| ENST00000540013.5:c.21-6_26del | ||
| ENST00000541157.5:n.185-6_190del | ||
| NM_005590.3:c.21-6_26del | ||
| NM_005591.3:c.21-6_26del , LRG_85t1:c.21-6_26del | ||
| XM_006718842.2:c.21-6_26del | ||
| XM_011542837.1:c.21-6_26del | ||
| XR_947828.1:n.317-6_322del | ||
| NM_001330347.1:c.21-6_26del | ||
| XM_006718842.3:c.21-6_26del | ||
| XM_011542837.2:c.21-6_26del | ||
| XM_017017772.1:c.21-6_26del | ||
| XR_947828.2:n.317-6_322del | ||
| NM_001330347.2:c.21-6_26del | ||
| NM_005590.4:c.21-6_26del | ||
| NM_005591.4:c.21-6_26del |