gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026035 (NFE)
Genomes Max Group AF
0.00014675 (NFE)
Exomes Max Group AF
0.00026243 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89295243dup , CM000673.2:g.89295243dup | GRCh38 |
| NC_000011.9:g.89028411dup , CM000673.1:g.89028411dup | GRCh37 |
| NC_000011.8:g.88668059dup | NCBI36 |
| NG_008748.1:g.122372dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1467dup MANE Select | ENSP00000263321.4:p.Ala490CysfsTer20 | |
| ENST00000263321.5:c.1467dup | ENSP00000263321.4:p.Ala490CysfsTer20 | |
| ENST00000528243.1:n.465dup | ||
| NM_000372.4:c.1467dup | NP_000363.1:p.Ala490CysfsTer20 | |
| NM_000372.5:c.1467dup MANE Select | NP_000363.1:p.Ala490CysfsTer20 |