Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736261_153736262delinsCT , CM000685.2:g.153736261_153736262delinsCT | GRCh38 |
| NC_000023.10:g.153001715_153001716delinsCT , CM000685.1:g.153001715_153001716delinsCT | GRCh37 |
| NC_000023.9:g.152654909_152654910delinsCT | NCBI36 |
| NG_009022.2:g.16394_16395delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1224+7_1224+8delinsCT MANE Select | ENSP00000218104.3:n.1224+7_1224+8delinsCT | |
| ENST00000218104.5:c.1224+7_1224+8delinsCT | ENSP00000218104.3:n.1224+7_1224+8delinsCT | |
| ENST00000443684.2:n.227+7_227+8delinsCT | ||
| NM_000033.3:c.1224+7_1224+8delinsCT | NP_000024.2:n.1224+7_1224+8delinsCT | |
| XR_938507.1:n.1640+7_1640+8delinsCT | ||
| XR_938507.2:n.1640+7_1640+8delinsCT | ||
| NM_000033.4:c.1224+7_1224+8delinsCT MANE Select | NP_000024.2:n.1224+7_1224+8delinsCT |