gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008208 (NFE)
Genomes Max Group AF
0.00004774 (NFE)
Exomes Max Group AF
0.00008088 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102065712dup , CM000672.2:g.102065712dup | GRCh38 |
| NC_000010.10:g.103825469dup , CM000672.1:g.103825469dup | GRCh37 |
| NC_000010.9:g.103815459dup | NCBI36 |
| NG_012029.1:g.5323dup , LRG_564:g.5323dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299238.7:c.238dup MANE Select | ENSP00000299238.5:p.Asp80GlyfsTer? | |
| ENST00000299238.6:c.238dup | ENSP00000299238.5:p.Asp80GlyfsTer? | |
| NM_024747.5:c.238dup , LRG_564t1:c.238dup | NP_079023.2:p.Asp80GlyfsTer? | |
| NM_024747.6:c.238dup MANE Select | NP_079023.2:p.Asp80GlyfsTer? |