Canonical Allele Identifier: CA2800863406
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423439del , CM000676.2:g.23423439del GRCh38
NC_000014.8:g.23892648del , CM000676.1:g.23892648del GRCh37
NC_000014.7:g.22962488del NCBI36
NG_007884.1:g.17223del , LRG_384:g.17223del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+108del MANE Select ENSP00000347507.3:n.3099+108del
ENST00000355349.3:c.3099+108del ENSP00000347507.3:n.3099+108del
NM_000257.3:c.3099+108del NP_000248.2:n.3099+108del
XR_245686.3:n.3205+108del
XM_017021340.1:c.3099+108del XP_016876829.1:n.3099+108del
NM_000257.4:c.3099+108del MANE Select NP_000248.2:n.3099+108del