gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001377 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232530139_232530140del , CM000664.2:g.232530139_232530140del | GRCh38 |
| NC_000002.11:g.233394849_233394850del , CM000664.1:g.233394849_233394850del | GRCh37 |
| NC_000002.10:g.233103093_233103094del | NCBI36 |
| NG_008028.1:g.8928_8929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.820_820+1del | ||
| ENST00000258385.7:c.820_820+1del | ||
| ENST00000412233.5:c.510-1213_510-1212del | ENSP00000398143.1:n.510-1213_510-1212del | |
| ENST00000441621.6:c.*2_*2+1del | ||
| ENST00000446616.1:c.*461_*461+1del | ||
| ENST00000543200.5:c.775_775+1del | ||
| NM_000751.2:c.820_820+1del | ||
| NM_001256657.1:c.775_775+1del | ||
| NM_001311195.1:c.239-1213_239-1212del | NP_001298124.1:n.239-1213_239-1212del | |
| NM_001311196.1:c.517_517+1del | ||
| NR_046333.1:c.-4294966730-1213_-4294966730-1212del | ||
| NR_046334.1:c.-4294966452_-4294966452+1del | ||
| XM_011510524.1:c.439_439+1del | ||
| XM_011510524.2:c.439_439+1del | ||
| NM_000751.3:c.820_820+1del | ||
| NM_001311195.2:c.239-1213_239-1212del | NP_001298124.1:n.239-1213_239-1212del | |
| NM_001311196.2:c.517_517+1del | ||
| NM_001256657.2:c.775_775+1del |