gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00462815 (AFR)
Genomes Max Group AF
0.0041916 (AFR)
Exomes Max Group AF
0.00483061 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611798_1611806del , CM000668.2:g.1611798_1611806del | GRCh38 |
| NC_000006.11:g.1612033_1612041del , CM000668.1:g.1612033_1612041del | GRCh37 |
| NC_000006.10:g.1557032_1557040del | NCBI36 |
| NG_009368.1:g.6353_6361del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.1353_1361del MANE Select | ENSP00000493906.1:p.Gly452_Gly454del | |
| ENST00000380874.3:c.1353_1361del | ENSP00000370256.2:p.Gly452_Gly454del | |
| NM_001453.2:c.1353_1361del | NP_001444.2:p.Gly452_Gly454del | |
| NM_001453.3:c.1353_1361del MANE Select | NP_001444.2:p.Gly452_Gly454del |