MyVariant.info:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005184 (SAS)
Genomes Max Group AF
0.00007333 (SAS)
Exomes Max Group AF
0.00003801 (SAS)
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352103_133352104del , CM000671.2:g.133352103_133352104del | GRCh38 |
| NC_000009.10:g.135208779_135208780del | NCBI36 |
| NG_008477.1:g.9405_9406del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.792_793del MANE Select | ENSP00000361042.3:p.Arg264SerfsTer27 | |
| ENST00000371974.7:c.792_793del | ENSP00000361042.3:p.Arg264SerfsTer27 | |
| ENST00000437995.1:n.702_703del | ||
| ENST00000495952.5:n.782_783del | ||
| ENST00000615505.4:c.465_466del | ENSP00000482067.1:p.Arg155SerfsTer27 | |
| NM_001280787.1:c.465_466del | NP_001267716.1:p.Arg155SerfsTer27 | |
| NM_003172.3:c.792_793del | NP_003163.1:p.Arg264SerfsTer27 | |
| XM_011518942.1:c.465_466del | XP_011517244.1:p.Arg155SerfsTer27 | |
| NM_003172.4:c.792_793del MANE Select | NP_003163.1:p.Arg264SerfsTer27 |