dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27312406 (SAS)
Genomes Max Group AF
0.27312406 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19571282del , CM000686.2:g.19571282del | GRCh38 |
| NC_000024.9:g.21733168del , CM000686.1:g.21733168del | GRCh37 |
| NC_000024.8:g.20192556del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686158.1:n.199+3712del | ||
| ENST00000686905.1:n.133+3800del | ||
| ENST00000693214.1:n.221+3712del | ||
| ENST00000445715.6:n.101+3800del | ||
| ENST00000407724.7:n.170+3800del | ||
| ENST00000445715.5:n.101+3800del | ||
| ENST00000447202.2:n.123+3331del | ||
| ENST00000447520.5:n.101+3800del | ||
| ENST00000459719.6:n.221+3712del | ||
| ENST00000538014.2:n.240+1823del | ||
| NR_045128.1:n.125+3800del | ||
| NR_045129.1:n.125+3800del |