Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417495_23417501del , CM000676.2:g.23417495_23417501del | GRCh38 |
| NC_000014.8:g.23886704_23886710del , CM000676.1:g.23886704_23886710del | GRCh37 |
| NC_000014.7:g.22956544_22956550del | NCBI36 |
| NG_007884.1:g.23165_23171del , LRG_384:g.23165_23171del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4353+6_4353+12del (MYH7) MANE Select | ENSP00000347507.3:n.4353+6_4353+12del | |
| ENST00000355349.3:c.4353+6_4353+12del (MYH7) | ENSP00000347507.3:n.4353+6_4353+12del | |
| NM_000257.3:c.4353+6_4353+12del (MYH7) | NP_000248.2:n.4353+6_4353+12del | |
| NR_126491.1:n.814-38_814-32del (MHRT) | ||
| XM_017021340.1:c.4353+6_4353+12del (MYH7) | XP_016876829.1:n.4353+6_4353+12del | |
| NM_000257.4:c.4353+6_4353+12del (MYH7) MANE Select | NP_000248.2:n.4353+6_4353+12del |