Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281336_11281337del , CM000678.2:g.11281336_11281337del | GRCh38 |
| NC_000016.9:g.11375193_11375194del , CM000678.1:g.11375193_11375194del | GRCh37 |
| NC_000016.8:g.11282694_11282695del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649869.1:n.152+31558_152+31559del (RMI2) | ||
| ENST00000312511.3:c.-99_-98del (PRM1) | ENSP00000310515.3:n.-99_-98del | |
| ENST00000572173.1:c.-515-13880_-515-13879del (RMI2) | ENSP00000461206.1:n.-515-13880_-515-13879... | |
| ENST00000573910.1:n.160+31558_160+31559del (RMI2) | ||
| XR_933070.1:n.733+31558_733+31559del | ||
| XR_933070.3:n.876+31558_876+31559del |