MyVariant.info:
GRCh38
chr14:g.67722705_67722708del
GRCh38
chr14:g.67722699_67722702del
GRCh37
chr14:g.68189422_68189425del
GRCh37
chr14:g.68189416_68189419del
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000543 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67722705_67722708del , CM000676.2:g.67722705_67722708del | GRCh38 |
| NC_000014.8:g.68189422_68189425del , CM000676.1:g.68189422_68189425del | GRCh37 |
| NC_000014.7:g.67259175_67259178del | NCBI36 |
| NG_008321.1:g.25820_25823del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.63_66del (RDH12) MANE Select | ENSP00000449079.1:p.Ile22GlyfsTer19 | |
| ENST00000267502.3:c.63_66del (RDH12) | ENSP00000267502.3:p.Ile22GlyfsTer19 | |
| ENST00000551171.5:c.63_66del (RDH12) | ENSP00000449079.1:p.Ile22GlyfsTer19 | |
| NM_152443.2:c.63_66del (RDH12) | NP_689656.2:p.Ile22GlyfsTer19 | |
| XM_017020925.2:c.1313-12490_1313-12487del (GPHN) | XP_016876414.1:n.1313-12490_1313-12487del | |
| NM_152443.3:c.63_66del (RDH12) MANE Select | NP_689656.2:p.Ile22GlyfsTer19 |