Canonical Allele Identifier: CA2123458186
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413804_23413808delinsGGACT , CM000676.2:g.23413804_23413808delinsGGACT GRCh38
NC_000014.8:g.23883013_23883017delinsGGACT , CM000676.1:g.23883013_23883017delinsGGACT GRCh37
NC_000014.7:g.22952853_22952857delinsGGACT NCBI36
NG_007884.1:g.26854_26858delinsAGTCC , LRG_384:g.26854_26858delinsAGTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5741_5745delinsAGTCC MANE Select ENSP00000347507.3:p.Glu1914=
ENST00000355349.3:c.5741_5745delinsAGTCC ENSP00000347507.3:p.Glu1914=
NM_000257.3:c.5741_5745delinsAGTCC NP_000248.2:p.Glu1914=
XM_017021340.1:c.5741_5745delinsAGTCC XP_016876829.1:p.Glu1914=
NM_000257.4:c.5741_5745delinsAGTCC MANE Select NP_000248.2:p.Glu1914=
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