Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415485_23415487dup , CM000676.2:g.23415485_23415487dup | GRCh38 |
| NC_000014.8:g.23884694_23884696dup , CM000676.1:g.23884694_23884696dup | GRCh37 |
| NC_000014.7:g.22954534_22954536dup | NCBI36 |
| NG_007884.1:g.25184_25186dup , LRG_384:g.25184_25186dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.5186_5188dup (MYH7) MANE Select | NP_000248.2:p.Lys1729_Met1730insLys |
| ENST00000355349.4:c.5186_5188dup (MYH7) MANE Select | ENSP00000347507.3:p.Lys1729_Met1730insLys |
| NM_000257.3:c.5186_5188dup (MYH7) | NP_000248.2:p.Lys1729_Met1730insLys |
| NR_126491.1:n.36_38dup (MHRT) | |
| ENST00000355349.3:c.5186_5188dup (MYH7) | ENSP00000347507.3:p.Lys1729_Met1730insLys |
| XM_017021340.1:c.5186_5188dup (MYH7) | XP_016876829.1:p.Lys1729_Met1730insLys |