Canonical Allele Identifier: CA2123452818
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423441_23423442delinsAC , CM000676.2:g.23423441_23423442delinsAC GRCh38
NC_000014.8:g.23892650_23892651delinsAC , CM000676.1:g.23892650_23892651delinsAC GRCh37
NC_000014.7:g.22962490_22962491delinsAC NCBI36
NG_007884.1:g.17220_17221delinsGT , LRG_384:g.17220_17221delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+105_3099+106delinsGT MANE Select ENSP00000347507.3:n.3099+105_3099+106delinsGT
ENST00000355349.3:c.3099+105_3099+106delinsGT ENSP00000347507.3:n.3099+105_3099+106delinsGT
NM_000257.3:c.3099+105_3099+106delinsGT NP_000248.2:n.3099+105_3099+106delinsGT
XR_245686.3:n.3205+105_3205+106delinsGT
XM_017021340.1:c.3099+105_3099+106delinsGT XP_016876829.1:n.3099+105_3099+106delinsGT
NM_000257.4:c.3099+105_3099+106delinsGT MANE Select NP_000248.2:n.3099+105_3099+106delinsGT