Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153742883_153742885delinsCCT , CM000685.2:g.153742883_153742885delinsCCT | GRCh38 |
| NC_000023.10:g.153008337_153008339delinsCCT , CM000685.1:g.153008337_153008339delinsCCT | GRCh37 |
| NC_000023.9:g.152661531_152661533delinsCCT | NCBI36 |
| NG_009022.2:g.23016_23018delinsCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1781-104_1781-102delinsCCT MANE Select | ENSP00000218104.3:n.1781-104_1781-102delinsCCT | |
| ENST00000218104.5:c.1781-104_1781-102delinsCCT | ENSP00000218104.3:n.1781-104_1781-102delinsCCT | |
| NM_000033.3:c.1781-104_1781-102delinsCCT | NP_000024.2:n.1781-104_1781-102delinsCCT | |
| XR_938507.1:n.2253-104_2253-102delinsCCT | ||
| XR_938507.2:n.2253-104_2253-102delinsCCT | ||
| NM_000033.4:c.1781-104_1781-102delinsCCT MANE Select | NP_000024.2:n.1781-104_1781-102delinsCCT |