Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636084del , CM000663.2:g.171636084del | GRCh38 |
| NC_000001.10:g.171605224del , CM000663.1:g.171605224del | GRCh37 |
| NC_000001.9:g.169871847del | NCBI36 |
| NG_008859.1:g.21551del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000261.2:c.1357del (MYOC) MANE Select | NP_000252.1:p.Tyr453MetfsTer11 |
| ENST00000037502.11:c.1357del (MYOC) MANE Select | ENSP00000037502.5:p.Tyr453MetfsTer11 |
| NM_000261.1:c.1357del (MYOC) | NP_000252.1:p.Tyr453MetfsTer11 |
| ENST00000037502.10:c.1357del (MYOC) | ENSP00000037502.5:p.Tyr453MetfsTer11 |
| ENST00000614688.1:c.*321del (MYOC) | ENSP00000478680.1:n.*321del |
| ENST00000637303.1:c.235-2546del (MYOCOS) | ENSP00000490048.1:n.235-2546del |
| ENST00000638471.1:c.*695del (MYOC) | ENSP00000491206.1:n.*695del |