MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64194042 (AFR)
Genomes Max Group AF
0.60480927 (AFR)
Exomes Max Group AF
0.7135142 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15524572_15524590dup , CM000663.2:g.15524572_15524590dup | GRCh38 |
| NC_000001.10:g.15851067_15851085dup , CM000663.1:g.15851067_15851085dup | GRCh37 |
| NC_000001.9:g.15723654_15723672dup | NCBI36 |
| NG_029188.1:g.5203_5221dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375890.8:c.-123_-118+13dup | ||
| ENST00000447522.5:c.-118+264_-118+282dup | ENSP00000396540.1:n.-118+264_-118+282dup | |
| ENST00000469637.1:c.-239+1603_-239+1621dup | ENSP00000480785.1:n.-239+1603_-239+1621dup | |
| NM_032996.3:c.-123_-118+13dup | ||
| XM_005246014.2:c.-118+264_-118+282dup | XP_005246071.1:n.-118+264_-118+282dup | |
| XM_011542272.1:c.-118+1603_-118+1621dup | XP_011540574.1:n.-118+1603_-118+1621dup |