Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417568_23417570del , CM000676.2:g.23417568_23417570del | GRCh38 |
| NC_000014.8:g.23886777_23886779del , CM000676.1:g.23886777_23886779del | GRCh37 |
| NC_000014.7:g.22956617_22956619del | NCBI36 |
| NG_007884.1:g.23095_23097del , LRG_384:g.23095_23097del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4289_4291del (MYH7) MANE Select | ENSP00000347507.3:p.Val1430del | |
| ENST00000355349.3:c.4289_4291del (MYH7) | ENSP00000347507.3:p.Val1430del | |
| NM_000257.3:c.4289_4291del (MYH7) | NP_000248.2:p.Val1430del | |
| NR_126491.1:n.849_851del (MHRT) | ||
| XM_017021340.1:c.4289_4291del (MYH7) | XP_016876829.1:p.Val1430del | |
| NM_000257.4:c.4289_4291del (MYH7) MANE Select | NP_000248.2:p.Val1430del |