gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226872_5226873insA , CM000673.2:g.5226872_5226873insA | GRCh38 |
| NC_000011.9:g.5248102_5248103insA , CM000673.1:g.5248102_5248103insA | GRCh37 |
| NC_000011.8:g.5204678_5204679insA | NCBI36 |
| NG_000007.3:g.70743_70744insT | |
| NG_059281.1:g.5199_5200insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.92+57_92+58insT | ENSP00000494175.1:n.92+57_92+58insT | |
| ENST00000335295.4:c.92+57_92+58insT MANE Select | ENSP00000333994.3:n.92+57_92+58insT | |
| ENST00000380315.2:c.92+57_92+58insT | ENSP00000369671.2:n.92+57_92+58insT | |
| ENST00000485743.1:n.143+57_143+58insT | ||
| ENST00000633227.1:c.77-74_77-73insT | ENSP00000488004.1:n.77-74_77-73insT | |
| NM_000518.4:c.92+57_92+58insT | NP_000509.1:n.92+57_92+58insT | |
| NM_000518.5:c.92+57_92+58insT MANE Select | NP_000509.1:n.92+57_92+58insT |