Canonical Allele Identifier: CA2123455863
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433603_23433604delinsGT , CM000676.2:g.23433603_23433604delinsGT GRCh38
NC_000014.8:g.23902812_23902813delinsGT , CM000676.1:g.23902812_23902813delinsGT GRCh37
NC_000014.7:g.22972652_22972653delinsGT NCBI36
NG_007884.1:g.7058_7059delinsAC , LRG_384:g.7058_7059delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.129_130delinsAC MANE Select ENSP00000347507.3:p.Lys43=
ENST00000355349.3:c.129_130delinsAC ENSP00000347507.3:p.Lys43=
NM_000257.3:c.129_130delinsAC NP_000248.2:p.Lys43=
XR_245686.3:n.235_236delinsAC
XM_017021340.1:c.129_130delinsAC XP_016876829.1:p.Lys43=
NM_000257.4:c.129_130delinsAC MANE Select NP_000248.2:p.Lys43=
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