Linked Data
dbSNP Id:
rs1566524167
gnomAD v2:
14-23885484-GC-G
gnomAD v3:
14-23416275-GC-G
gnomAD v4:
14-23416275-GC-G
MyVariant Identifiers:
chr14:g.23885485del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416278del , CM000676.2:g.23416278del | GRCh38 |
| NC_000014.8:g.23885487del , CM000676.1:g.23885487del | GRCh37 |
| NC_000014.7:g.22955327del | NCBI36 |
| NG_007884.1:g.24386del , LRG_384:g.24386del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4681del (MYH7) MANE Select | ENSP00000347507.3:p.Ala1561ProfsTer? | |
| ENST00000355349.3:c.4681del (MYH7) | ENSP00000347507.3:p.Ala1561ProfsTer? | |
| NM_000257.3:c.4681del (MYH7) | NP_000248.2:p.Ala1561ProfsTer? | |
| NR_126491.1:n.539del (MHRT) | ||
| XM_017021340.1:c.4681del (MYH7) | XP_016876829.1:p.Ala1561ProfsTer? | |
| NM_000257.4:c.4681del (MYH7) MANE Select | NP_000248.2:p.Ala1561ProfsTer? |