Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960865_19960866delinsTC , CM000670.2:g.19960865_19960866delinsTC | GRCh38 |
| NC_000008.10:g.19818376_19818377delinsTC , CM000670.1:g.19818376_19818377delinsTC | GRCh37 |
| NC_000008.9:g.19862656_19862657delinsTC | NCBI36 |
| NG_008855.1:g.26795_26796delinsTC | |
| NG_008855.2:g.64149_64150delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1140-36_1140-35delinsTC MANE Select | ENSP00000497642.1:n.1140-36_1140-35delinsTC | |
| ENST00000650478.1:c.80-36_80-35delinsTC | ENSP00000497560.1:n.80-36_80-35delinsTC | |
| ENST00000311322.8:c.1140-36_1140-35delinsTC | ENSP00000309757.6:n.1140-36_1140-35delinsTC | |
| NM_000237.2:c.1140-36_1140-35delinsTC | NP_000228.1:n.1140-36_1140-35delinsTC | |
| NM_000237.3:c.1140-36_1140-35delinsTC MANE Select | NP_000228.1:n.1140-36_1140-35delinsTC |