Canonical Allele Identifier: CA2695219148
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431794_23431796del , CM000676.2:g.23431794_23431796del GRCh38
NC_000014.8:g.23901003_23901005del , CM000676.1:g.23901003_23901005del GRCh37
NC_000014.7:g.22970843_22970845del NCBI36
NG_007884.1:g.8867_8869del , LRG_384:g.8867_8869del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.605_607del MANE Select ENSP00000347507.3:p.Gly202del
ENST00000355349.3:c.605_607del ENSP00000347507.3:p.Gly202del
NM_000257.3:c.605_607del NP_000248.2:p.Gly202del
XR_245686.3:n.711_713del
XM_017021340.1:c.605_607del XP_016876829.1:p.Gly202del
NM_000257.4:c.605_607del MANE Select NP_000248.2:p.Gly202del