Canonical Allele Identifier: CA2123452699
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423430_23423442delinsAACACAAACACAC , CM000676.2:g.23423430_23423442delinsAACACAAACACAC GRCh38
NC_000014.8:g.23892639_23892651delinsAACACAAACACAC , CM000676.1:g.23892639_23892651delinsAACACAAACACAC GRCh37
NC_000014.7:g.22962479_22962491delinsAACACAAACACAC NCBI36
NG_007884.1:g.17220_17232delinsGTGTGTTTGTGTT , LRG_384:g.17220_17232delinsGTGTGTTTGTGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+105_3099+117delinsGTGTGTTTGTGTT MANE Select ENSP00000347507.3:n.3099+105_3099+117delinsGTGTGTTTGTGTT
ENST00000355349.3:c.3099+105_3099+117delinsGTGTGTTTGTGTT ENSP00000347507.3:n.3099+105_3099+117delinsGTGTGTTTGTGTT
NM_000257.3:c.3099+105_3099+117delinsGTGTGTTTGTGTT NP_000248.2:n.3099+105_3099+117delinsGTGTGTTTGTGTT
XR_245686.3:n.3205+105_3205+117delinsGTGTGTTTGTGTT
XM_017021340.1:c.3099+105_3099+117delinsGTGTGTTTGTGTT XP_016876829.1:n.3099+105_3099+117delinsGTGTGTTTGTGTT
NM_000257.4:c.3099+105_3099+117delinsGTGTGTTTGTGTT MANE Select NP_000248.2:n.3099+105_3099+117delinsGTGTGTTTGTGTT