Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787917_18787918insCC , CM000681.2:g.18787917_18787918insCC | GRCh38 |
| NC_000019.9:g.18898726_18898727insCC , CM000681.1:g.18898726_18898727insCC | GRCh37 |
| NC_000019.8:g.18759726_18759727insCC | NCBI36 |
| NG_007070.1:g.8388_8389insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-268_976-267insGG MANE Select | ENSP00000222271.2:n.976-268_976-267insGG | |
| ENST00000222271.6:c.976-268_976-267insGG | ENSP00000222271.2:n.976-268_976-267insGG | |
| ENST00000425807.1:c.817-268_817-267insGG | ENSP00000403792.1:n.817-268_817-267insGG | |
| ENST00000542601.6:c.877-268_877-267insGG | ENSP00000439156.2:n.877-268_877-267insGG | |
| NM_000095.2:c.976-268_976-267insGG | NP_000086.2:n.976-268_976-267insGG | |
| NM_000095.3:c.976-268_976-267insGG MANE Select | NP_000086.2:n.976-268_976-267insGG |