Linked Data
ClinVar Variation Id:
2044159
ClinVar RCV Id:
RCV002903474
gnomAD v4:
14-23417473-TGCTGGCTGCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417476_23417485del , CM000676.2:g.23417476_23417485del | GRCh38 |
| NC_000014.8:g.23886685_23886694del , CM000676.1:g.23886685_23886694del | GRCh37 |
| NC_000014.7:g.22956525_22956534del | NCBI36 |
| NG_007884.1:g.23179_23188del , LRG_384:g.23179_23188del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4353+20_4353+29del (MYH7) MANE Select | ENSP00000347507.3:n.4353+20_4353+29del | |
| ENST00000355349.3:c.4353+20_4353+29del (MYH7) | ENSP00000347507.3:n.4353+20_4353+29del | |
| NM_000257.3:c.4353+20_4353+29del (MYH7) | NP_000248.2:n.4353+20_4353+29del | |
| NR_126491.1:n.814-57_814-48del (MHRT) | ||
| XM_017021340.1:c.4353+20_4353+29del (MYH7) | XP_016876829.1:n.4353+20_4353+29del | |
| NM_000257.4:c.4353+20_4353+29del (MYH7) MANE Select | NP_000248.2:n.4353+20_4353+29del |