Canonical Allele Identifier: CA2123452890
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423484_23423488delinsCACAG , CM000676.2:g.23423484_23423488delinsCACAG GRCh38
NC_000014.8:g.23892693_23892697delinsCACAG , CM000676.1:g.23892693_23892697delinsCACAG GRCh37
NC_000014.7:g.22962533_22962537delinsCACAG NCBI36
NG_007884.1:g.17174_17178delinsCTGTG , LRG_384:g.17174_17178delinsCTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+59_3099+63delinsCTGTG MANE Select ENSP00000347507.3:n.3099+59_3099+63delinsCTGTG
ENST00000355349.3:c.3099+59_3099+63delinsCTGTG ENSP00000347507.3:n.3099+59_3099+63delinsCTGTG
NM_000257.3:c.3099+59_3099+63delinsCTGTG NP_000248.2:n.3099+59_3099+63delinsCTGTG
XR_245686.3:n.3205+59_3205+63delinsCTGTG
XM_017021340.1:c.3099+59_3099+63delinsCTGTG XP_016876829.1:n.3099+59_3099+63delinsCTGTG
NM_000257.4:c.3099+59_3099+63delinsCTGTG MANE Select NP_000248.2:n.3099+59_3099+63delinsCTGTG