MyVariant.info:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0006727 (EAS)
Genomes Max Group AF
0.00006823 (EAS)
Exomes Max Group AF
0.00071617 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343384_73343385insTCAC , CM000677.2:g.73343384_73343385insTCAC | GRCh38 |
| NC_000015.9:g.73635725_73635726insTCAC , CM000677.1:g.73635725_73635726insTCAC | GRCh37 |
| NC_000015.8:g.71422778_71422779insTCAC | NCBI36 |
| NG_009063.1:g.30882_30883insGAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1209+2_1209+3insGAGT MANE Select | ENSP00000261917.3:n.1209+2_1209+3insGAGT | |
| ENST00000261917.3:c.1209+2_1209+3insGAGT | ENSP00000261917.3:n.1209+2_1209+3insGAGT | |
| NM_005477.2:c.1209+2_1209+3insGAGT | NP_005468.1:n.1209+2_1209+3insGAGT | |
| NM_005477.3:c.1209+2_1209+3insGAGT MANE Select | NP_005468.1:n.1209+2_1209+3insGAGT |