Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67727180_67727210del , CM000676.2:g.67727180_67727210del | GRCh38 |
| NC_000014.8:g.68193897_68193927del , CM000676.1:g.68193897_68193927del | GRCh37 |
| NC_000014.7:g.67263650_67263680del | NCBI36 |
| NG_008321.1:g.30295_30325del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551171.6:c.648_658+20del (RDH12) | ||
| ENST00000267502.3:c.648_658+20del (RDH12) | ||
| ENST00000551171.5:c.648_658+20del (RDH12) | ||
| ENST00000552873.1:n.17_27+20del (RDH12) | ||
| NM_152443.2:c.648_658+20del (RDH12) | ||
| XM_017020925.2:c.1313-8015_1313-7985del (GPHN) | XP_016876414.1:n.1313-8015_1313-7985del | |
| NM_152443.3:c.648_658+20del (RDH12) |