gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17645619 (AFR)
Genomes Max Group AF
0.17645619 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128257585dup , CM000669.2:g.128257585dup | GRCh38 |
| NC_000007.13:g.127897638dup , CM000669.1:g.127897638dup | GRCh37 |
| NC_000007.12:g.127684874dup | NCBI36 |
| NG_007450.1:g.21308dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308868.5:c.*2822dup MANE Select | ENSP00000312652.4:n.*2822dup | |
| ENST00000308868.4:c.*2822dup | ENSP00000312652.4:n.*2822dup | |
| NM_000230.2:c.*2822dup | NP_000221.1:n.*2822dup | |
| XM_005250340.3:c.*2822dup | XP_005250397.1:n.*2822dup | |
| NM_000230.3:c.*2822dup MANE Select | NP_000221.1:n.*2822dup |