Linked Data
ClinVar Variation Id:
3015142
ClinVar RCV Id:
RCV003870749
dbSNP Id:
rs1566525434
gnomAD v2:
14-23886691-CG-C
gnomAD v4:
14-23417482-CG-C
MyVariant Identifiers:
chr14:g.23886692del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417484del , CM000676.2:g.23417484del | GRCh38 |
| NC_000014.8:g.23886693del , CM000676.1:g.23886693del | GRCh37 |
| NC_000014.7:g.22956533del | NCBI36 |
| NG_007884.1:g.23179del , LRG_384:g.23179del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4353+20del (MYH7) MANE Select | ENSP00000347507.3:n.4353+20del | |
| ENST00000355349.3:c.4353+20del (MYH7) | ENSP00000347507.3:n.4353+20del | |
| NM_000257.3:c.4353+20del (MYH7) | NP_000248.2:n.4353+20del | |
| NR_126491.1:n.814-49del (MHRT) | ||
| XM_017021340.1:c.4353+20del (MYH7) | XP_016876829.1:n.4353+20del | |
| NM_000257.4:c.4353+20del (MYH7) MANE Select | NP_000248.2:n.4353+20del |