Linked Data
gnomAD v4:
1-171635988-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171635990del , CM000663.2:g.171635990del | GRCh38 |
| NC_000001.10:g.171605130del , CM000663.1:g.171605130del | GRCh37 |
| NC_000001.9:g.169871753del | NCBI36 |
| NG_008859.1:g.21645del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1451del (MYOC) MANE Select | ENSP00000037502.5:p.Lys484ArgfsTer9 | |
| ENST00000637303.1:c.235-2640del (MYOCOS) | ENSP00000490048.1:n.235-2640del | |
| ENST00000638471.1:c.*789del (MYOC) | ENSP00000491206.1:n.*789del | |
| ENST00000037502.10:c.1451del (MYOC) | ENSP00000037502.5:p.Lys484ArgfsTer9 | |
| ENST00000614688.1:c.*415del (MYOC) | ENSP00000478680.1:n.*415del | |
| NM_000261.1:c.1451del (MYOC) | NP_000252.1:p.Lys484ArgfsTer9 | |
| NM_000261.2:c.1451del (MYOC) MANE Select | NP_000252.1:p.Lys484ArgfsTer9 |