ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729310del , CM000676.2:g.67729310del | GRCh38 |
| NC_000014.8:g.68196027del , CM000676.1:g.68196027del | GRCh37 |
| NC_000014.7:g.67265780del | NCBI36 |
| NG_008321.1:g.32425del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.778del (RDH12) MANE Select | ENSP00000449079.1:p.Glu260ArgfsTer18 | |
| ENST00000267502.3:c.778del (RDH12) | ENSP00000267502.3:p.Glu260ArgfsTer18 | |
| ENST00000394455.6:n.3191del (ZFYVE26) | ||
| ENST00000551171.5:c.778del (RDH12) | ENSP00000449079.1:p.Glu260ArgfsTer18 | |
| ENST00000552873.1:n.147del (RDH12) | ||
| NM_152443.2:c.778del (RDH12) | NP_689656.2:p.Glu260ArgfsTer18 | |
| XM_017020925.2:c.1313-5885del (GPHN) | XP_016876414.1:n.1313-5885del | |
| XM_017021125.1:c.*434del (ZFYVE26) | XP_016876614.1:n.*434del | |
| NM_152443.3:c.778del (RDH12) MANE Select | NP_689656.2:p.Glu260ArgfsTer18 |