Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67725020_67725021del , CM000676.2:g.67725020_67725021del | GRCh38 |
| NC_000014.8:g.68191737_68191738del , CM000676.1:g.68191737_68191738del | GRCh37 |
| NC_000014.7:g.67261490_67261491del | NCBI36 |
| NG_008321.1:g.28135_28136del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.188-79_188-78del (RDH12) MANE Select | ENSP00000449079.1:n.188-79_188-78del | |
| ENST00000267502.3:c.188-79_188-78del (RDH12) | ENSP00000267502.3:n.188-79_188-78del | |
| ENST00000551171.5:c.188-79_188-78del (RDH12) | ENSP00000449079.1:n.188-79_188-78del | |
| NM_152443.2:c.188-79_188-78del (RDH12) | NP_689656.2:n.188-79_188-78del | |
| XM_017020925.2:c.1313-10175_1313-10174del (GPHN) | XP_016876414.1:n.1313-10175_1313-10174del | |
| NM_152443.3:c.188-79_188-78del (RDH12) MANE Select | NP_689656.2:n.188-79_188-78del |