Canonical Allele Identifier: CA2575487045
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433456_23433462del , CM000676.2:g.23433456_23433462del GRCh38
NC_000014.8:g.23902665_23902671del , CM000676.1:g.23902665_23902671del GRCh37
NC_000014.7:g.22972505_22972511del NCBI36
NG_007884.1:g.7209_7215del , LRG_384:g.7209_7215del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.201+79_201+85del MANE Select ENSP00000347507.3:n.201+79_201+85del
ENST00000355349.3:c.201+79_201+85del ENSP00000347507.3:n.201+79_201+85del
NM_000257.3:c.201+79_201+85del NP_000248.2:n.201+79_201+85del
XR_245686.3:n.307+79_307+85del
XM_017021340.1:c.201+79_201+85del XP_016876829.1:n.201+79_201+85del
NM_000257.4:c.201+79_201+85del MANE Select NP_000248.2:n.201+79_201+85del