gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84115999 (EAS)
Genomes Max Group AF
0.81927009 (AFR)
Exomes Max Group AF
0.8424438 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12290499del , CM000668.2:g.12290499del | GRCh38 |
| NC_000006.11:g.12290732del , CM000668.1:g.12290732del | GRCh37 |
| NC_000006.10:g.12398718del | NCBI36 |
| NG_016196.1:g.5204del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.-131del MANE Select | ENSP00000368683.5:n.-131del | |
| ENST00000379375.5:c.-131del | ENSP00000368683.5:n.-131del | |
| NM_001168319.1:c.-131del | NP_001161791.1:n.-131del | |
| NM_001955.4:c.-131del | NP_001946.3:n.-131del | |
| XM_011514330.1:c.-1-130del | XP_011512632.1:n.-1-130del | |
| XM_011514331.1:c.-1-130del | XP_011512633.1:n.-1-130del | |
| XM_011514332.1:c.-1-130del | XP_011512634.1:n.-1-130del | |
| XM_011514330.2:c.-1-130del | XP_011512632.1:n.-1-130del | |
| XM_011514331.3:c.-1-130del | XP_011512633.1:n.-1-130del | |
| XM_011514332.2:c.-1-130del | XP_011512634.1:n.-1-130del | |
| XM_017010331.1:c.-1-130del | XP_016865820.1:n.-1-130del | |
| NM_001955.5:c.-131del MANE Select | NP_001946.3:n.-131del | |
| NM_001168319.2:c.-131del | NP_001161791.1:n.-131del |