Canonical Allele Identifier: CA2123451360
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422536_23422537delinsTG , CM000676.2:g.23422536_23422537delinsTG GRCh38
NC_000014.8:g.23891745_23891746delinsTG , CM000676.1:g.23891745_23891746delinsTG GRCh37
NC_000014.7:g.22961585_22961586delinsTG NCBI36
NG_007884.1:g.18125_18126delinsCA , LRG_384:g.18125_18126delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3100-212_3100-211delinsCA MANE Select ENSP00000347507.3:n.3100-212_3100-211delinsCA
ENST00000355349.3:c.3100-212_3100-211delinsCA ENSP00000347507.3:n.3100-212_3100-211delinsCA
NM_000257.3:c.3100-212_3100-211delinsCA NP_000248.2:n.3100-212_3100-211delinsCA
XR_245686.3:n.3206-212_3206-211delinsCA
XM_017021340.1:c.3100-212_3100-211delinsCA XP_016876829.1:n.3100-212_3100-211delinsCA
NM_000257.4:c.3100-212_3100-211delinsCA MANE Select NP_000248.2:n.3100-212_3100-211delinsCA
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