Linked Data
gnomAD v4:
14-23415878-CCCTTCACTAAAGGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415882_23415896del , CM000676.2:g.23415882_23415896del | GRCh38 |
| NC_000014.8:g.23885091_23885105del , CM000676.1:g.23885091_23885105del | GRCh37 |
| NC_000014.7:g.22954931_22954945del | NCBI36 |
| NG_007884.1:g.24769_24783del , LRG_384:g.24769_24783del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4954-61_4954-47del (MYH7) MANE Select | ENSP00000347507.3:n.4954-61_4954-47del | |
| ENST00000355349.3:c.4954-61_4954-47del (MYH7) | ENSP00000347507.3:n.4954-61_4954-47del | |
| NM_000257.3:c.4954-61_4954-47del (MYH7) | NP_000248.2:n.4954-61_4954-47del | |
| NR_126491.1:n.261+53_261+67del (MHRT) | ||
| XM_017021340.1:c.4954-61_4954-47del (MYH7) | XP_016876829.1:n.4954-61_4954-47del | |
| NM_000257.4:c.4954-61_4954-47del (MYH7) MANE Select | NP_000248.2:n.4954-61_4954-47del |