gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12296029dup , CM000668.2:g.12296029dup | GRCh38 |
| NC_000006.11:g.12296262dup , CM000668.1:g.12296262dup | GRCh37 |
| NC_000006.10:g.12404248dup | NCBI36 |
| NG_016196.1:g.10734dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.601dup MANE Select | ENSP00000368683.5:p.Arg201LysfsTer? | |
| ENST00000379375.5:c.601dup | ENSP00000368683.5:p.Arg201LysfsTer? | |
| NM_001168319.1:c.598dup | NP_001161791.1:p.Arg200LysfsTer? | |
| NM_001955.4:c.601dup | NP_001946.3:p.Arg201LysfsTer? | |
| XM_011514330.1:c.601dup | XP_011512632.1:p.Arg201LysfsTer? | |
| XM_011514331.1:c.601dup | XP_011512633.1:p.Arg201LysfsTer? | |
| XM_011514332.1:c.598dup | XP_011512634.1:p.Arg200LysfsTer? | |
| XM_011514330.2:c.601dup | XP_011512632.1:p.Arg201LysfsTer? | |
| XM_011514331.3:c.601dup | XP_011512633.1:p.Arg201LysfsTer? | |
| XM_011514332.2:c.598dup | XP_011512634.1:p.Arg200LysfsTer? | |
| XM_017010331.1:c.601dup | XP_016865820.1:p.Arg201LysfsTer? | |
| NM_001955.5:c.601dup MANE Select | NP_001946.3:p.Arg201LysfsTer? | |
| NM_001168319.2:c.598dup | NP_001161791.1:p.Arg200LysfsTer? |