Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281330_11281331del , CM000678.2:g.11281330_11281331del | GRCh38 |
| NC_000016.9:g.11375187_11375188del , CM000678.1:g.11375187_11375188del | GRCh37 |
| NC_000016.8:g.11282688_11282689del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649869.1:n.152+31552_152+31553del (RMI2) | ||
| ENST00000312511.3:c.-91_-90del (PRM1) | ENSP00000310515.3:n.-91_-90del | |
| ENST00000572173.1:c.-515-13886_-515-13885del (RMI2) | ENSP00000461206.1:n.-515-13886_-515-13885... | |
| ENST00000573910.1:n.160+31552_160+31553del (RMI2) | ||
| NM_002761.2:c.-91_-90del (PRM1) | NP_002752.1:n.-91_-90del | |
| XR_933070.1:n.733+31552_733+31553del | ||
| XR_933070.3:n.876+31552_876+31553del |