Canonical Allele Identifier: CA2123452709
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423430_23423438delinsAACACAAAC , CM000676.2:g.23423430_23423438delinsAACACAAAC GRCh38
NC_000014.8:g.23892639_23892647delinsAACACAAAC , CM000676.1:g.23892639_23892647delinsAACACAAAC GRCh37
NC_000014.7:g.22962479_22962487delinsAACACAAAC NCBI36
NG_007884.1:g.17224_17232delinsGTTTGTGTT , LRG_384:g.17224_17232delinsGTTTGTGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+109_3099+117delinsGTTTGTGTT MANE Select ENSP00000347507.3:n.3099+109_3099+117delinsGTTTGTGTT
ENST00000355349.3:c.3099+109_3099+117delinsGTTTGTGTT ENSP00000347507.3:n.3099+109_3099+117delinsGTTTGTGTT
NM_000257.3:c.3099+109_3099+117delinsGTTTGTGTT NP_000248.2:n.3099+109_3099+117delinsGTTTGTGTT
XR_245686.3:n.3205+109_3205+117delinsGTTTGTGTT
XM_017021340.1:c.3099+109_3099+117delinsGTTTGTGTT XP_016876829.1:n.3099+109_3099+117delinsGTTTGTGTT
NM_000257.4:c.3099+109_3099+117delinsGTTTGTGTT MANE Select NP_000248.2:n.3099+109_3099+117delinsGTTTGTGTT