MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000732 (AFR)
Genomes Max Group AF
0.00091649 (AFR)
Exomes Max Group AF
0.00023992 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767488_28767514dup , CM000676.2:g.28767488_28767514dup | GRCh38 |
| NC_000014.8:g.29236694_29236720dup , CM000676.1:g.29236694_29236720dup | GRCh37 |
| NC_000014.7:g.28306445_28306471dup | NCBI36 |
| NG_009367.1:g.5408_5434dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.209_235dup | ENSP00000516406.1:p.Pro78_Pro79insGlnGlnGlnGlnProProProProPro... | |
| ENST00000313071.7:c.209_235dup MANE Select | ENSP00000339004.3:p.Pro78_Pro79insGlnGlnGlnGlnProProProProPro... | |
| ENST00000313071.6:c.209_235dup | ENSP00000339004.3:p.Pro78_Pro79insGlnGlnGlnGlnProProProProPro... | |
| NM_005249.4:c.209_235dup | NP_005240.3:p.Pro78_Pro79insGlnGlnGlnGlnProProProProPro | |
| NM_005249.5:c.209_235dup MANE Select | NP_005240.3:p.Pro78_Pro79insGlnGlnGlnGlnProProProProPro |