Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729193_67729225del , CM000676.2:g.67729193_67729225del | GRCh38 |
| NC_000014.8:g.68195910_68195942del , CM000676.1:g.68195910_68195942del | GRCh37 |
| NC_000014.7:g.67265663_67265695del | NCBI36 |
| NG_008321.1:g.32308_32340del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.661_693del (RDH12) | ||
| ENST00000267502.3:c.661_693del (RDH12) | ||
| ENST00000394455.6:n.3281_3288+25del (ZFYVE26) | ||
| ENST00000551171.5:c.661_693del (RDH12) | ||
| ENST00000552873.1:n.30_62del (RDH12) | ||
| NM_152443.2:c.661_693del (RDH12) | ||
| XM_017020925.2:c.1313-6002_1313-5970del (GPHN) | XP_016876414.1:n.1313-6002_1313-5970del | |
| XM_017021125.1:c.*524_*556del (ZFYVE26) | XP_016876614.1:n.*524_*556del | |
| NM_152443.3:c.661_693del (RDH12) |