Canonical Allele Identifier: CA2123448025
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420656_23420657delinsCA , CM000676.2:g.23420656_23420657delinsCA GRCh38
NC_000014.8:g.23889865_23889866delinsCA , CM000676.1:g.23889865_23889866delinsCA GRCh37
NC_000014.7:g.22959705_22959706delinsCA NCBI36
NG_007884.1:g.20005_20006delinsTG , LRG_384:g.20005_20006delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3336+301_3336+302delinsTG MANE Select ENSP00000347507.3:n.3336+301_3336+302delinsTG
ENST00000355349.3:c.3336+301_3336+302delinsTG ENSP00000347507.3:n.3336+301_3336+302delinsTG
NM_000257.3:c.3336+301_3336+302delinsTG NP_000248.2:n.3336+301_3336+302delinsTG
XR_245686.3:n.3444+301_3444+302delinsTG
XM_017021340.1:c.3336+301_3336+302delinsTG XP_016876829.1:n.3336+301_3336+302delinsTG
NM_000257.4:c.3336+301_3336+302delinsTG MANE Select NP_000248.2:n.3336+301_3336+302delinsTG