gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31936352 (SAS)
Genomes Max Group AF
0.31936352 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11256955_11256956del , CM000678.2:g.11256955_11256956del | GRCh38 |
| NC_000016.9:g.11350812_11350813del , CM000678.1:g.11350812_11350813del | GRCh37 |
| NC_000016.8:g.11258313_11258314del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+7177_152+7178del | ||
| ENST00000572173.1:c.-516+7177_-516+7178del | ENSP00000461206.1:n.-516+7177_-516+7178del | |
| ENST00000573910.1:n.160+7177_160+7178del | ||
| XR_933070.1:n.733+7177_733+7178del | ||
| XR_933070.3:n.876+7177_876+7178del |