Canonical Allele Identifier: CA2800863416
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423441del , CM000676.2:g.23423441del GRCh38
NC_000014.8:g.23892650del , CM000676.1:g.23892650del GRCh37
NC_000014.7:g.22962490del NCBI36
NG_007884.1:g.17221del , LRG_384:g.17221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+106del MANE Select ENSP00000347507.3:n.3099+106del
ENST00000355349.3:c.3099+106del ENSP00000347507.3:n.3099+106del
NM_000257.3:c.3099+106del NP_000248.2:n.3099+106del
XR_245686.3:n.3205+106del
XM_017021340.1:c.3099+106del XP_016876829.1:n.3099+106del
NM_000257.4:c.3099+106del MANE Select NP_000248.2:n.3099+106del