gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001004 (SAS)
Exomes Max Group AF
0.00001013 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122456869_122456870insAC , CM000672.2:g.122456869_122456870insAC | GRCh38 |
| NC_000010.10:g.124216385_124216386insAC , CM000672.1:g.124216385_124216386insAC | GRCh37 |
| NC_000010.9:g.124206375_124206376insAC | NCBI36 |
| NG_011554.1:g.345_346insAC | |
| NG_011725.1:g.7207_7208insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528446.1:c.298-38_298-37insAC MANE Select | ENSP00000436682.1:n.298-38_298-37insAC | |
| NM_001099667.1:c.298-38_298-37insAC | NP_001093137.1:n.298-38_298-37insAC | |
| XR_946382.1:n.1827+1625_1827+1626insGT | ||
| XR_946383.1:n.1827+1625_1827+1626insGT | ||
| XR_946384.1:n.1576+1625_1576+1626insGT | ||
| XR_946385.1:n.1827+1625_1827+1626insGT | ||
| NM_001099667.2:c.298-38_298-37insAC | NP_001093137.1:n.298-38_298-37insAC | |
| XR_946382.2:n.1855+1625_1855+1626insGT | ||
| XR_946383.2:n.1855+1625_1855+1626insGT | ||
| XR_946384.2:n.1580+1625_1580+1626insGT | ||
| XR_946385.2:n.1855+1625_1855+1626insGT | ||
| NM_001099667.3:c.298-38_298-37insAC MANE Select | NP_001093137.1:n.298-38_298-37insAC |