Canonical Allele Identifier: CA2123452680
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423426_23423436delinsCATAAACACAA , CM000676.2:g.23423426_23423436delinsCATAAACACAA GRCh38
NC_000014.8:g.23892635_23892645delinsCATAAACACAA , CM000676.1:g.23892635_23892645delinsCATAAACACAA GRCh37
NC_000014.7:g.22962475_22962485delinsCATAAACACAA NCBI36
NG_007884.1:g.17226_17236delinsTTGTGTTTATG , LRG_384:g.17226_17236delinsTTGTGTTTATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+111_3099+121delinsTTGTGTTTATG MANE Select ENSP00000347507.3:n.3099+111_3099+121delinsTTGTGTTTATG
ENST00000355349.3:c.3099+111_3099+121delinsTTGTGTTTATG ENSP00000347507.3:n.3099+111_3099+121delinsTTGTGTTTATG
NM_000257.3:c.3099+111_3099+121delinsTTGTGTTTATG NP_000248.2:n.3099+111_3099+121delinsTTGTGTTTATG
XR_245686.3:n.3205+111_3205+121delinsTTGTGTTTATG
XM_017021340.1:c.3099+111_3099+121delinsTTGTGTTTATG XP_016876829.1:n.3099+111_3099+121delinsTTGTGTTTATG
NM_000257.4:c.3099+111_3099+121delinsTTGTGTTTATG MANE Select NP_000248.2:n.3099+111_3099+121delinsTTGTGTTTATG