Linked Data
dbSNP Id:
rs1566523547
gnomAD v2:
14-23885069-AG-A
gnomAD v4:
14-23415860-AG-A
MyVariant Identifiers:
chr14:g.23885070del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415863del , CM000676.2:g.23415863del | GRCh38 |
| NC_000014.8:g.23885072del , CM000676.1:g.23885072del | GRCh37 |
| NC_000014.7:g.22954912del | NCBI36 |
| NG_007884.1:g.24801del , LRG_384:g.24801del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4954-29del (MYH7) MANE Select | ENSP00000347507.3:n.4954-29del | |
| ENST00000355349.3:c.4954-29del (MYH7) | ENSP00000347507.3:n.4954-29del | |
| NM_000257.3:c.4954-29del (MYH7) | NP_000248.2:n.4954-29del | |
| NR_126491.1:n.261+34del (MHRT) | ||
| XM_017021340.1:c.4954-29del (MYH7) | XP_016876829.1:n.4954-29del | |
| NM_000257.4:c.4954-29del (MYH7) MANE Select | NP_000248.2:n.4954-29del |