Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153741179_153741181delinsCAT , CM000685.2:g.153741179_153741181delinsCAT | GRCh38 |
| NC_000023.10:g.153006633_153006635delinsCAT , CM000685.1:g.153006633_153006635delinsCAT | GRCh37 |
| NC_000023.9:g.152659827_152659829delinsCAT | NCBI36 |
| NG_009022.2:g.21312_21314delinsCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1780+460_1780+462delinsCAT MANE Select | ENSP00000218104.3:n.1780+460_1780+462delinsCAT | |
| ENST00000218104.5:c.1780+460_1780+462delinsCAT | ENSP00000218104.3:n.1780+460_1780+462delinsCAT | |
| NM_000033.3:c.1780+460_1780+462delinsCAT | NP_000024.2:n.1780+460_1780+462delinsCAT | |
| XR_938507.1:n.2252+460_2252+462delinsCAT | ||
| XR_938507.2:n.2252+460_2252+462delinsCAT | ||
| NM_000033.4:c.1780+460_1780+462delinsCAT MANE Select | NP_000024.2:n.1780+460_1780+462delinsCAT |