Canonical Allele Identifier: CA2575486794
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431424_23431425del , CM000676.2:g.23431424_23431425del GRCh38
NC_000014.8:g.23900633_23900634del , CM000676.1:g.23900633_23900634del GRCh37
NC_000014.7:g.22970473_22970474del NCBI36
NG_007884.1:g.9240_9241del , LRG_384:g.9240_9241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.792_793del MANE Select ENSP00000347507.3:p.Glu264AspfsTer28
ENST00000355349.3:c.792_793del ENSP00000347507.3:p.Glu264AspfsTer28
NM_000257.3:c.792_793del NP_000248.2:p.Glu264AspfsTer28
XR_245686.3:n.898_899del
XM_017021340.1:c.792_793del XP_016876829.1:p.Glu264AspfsTer28
NM_000257.4:c.792_793del MANE Select NP_000248.2:p.Glu264AspfsTer28
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