Canonical Allele Identifier: CA2559600791
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423447_23423448insGA , CM000676.2:g.23423447_23423448insGA GRCh38
NC_000014.8:g.23892656_23892657insGA , CM000676.1:g.23892656_23892657insGA GRCh37
NC_000014.7:g.22962496_22962497insGA NCBI36
NG_007884.1:g.17215_17216insCT , LRG_384:g.17215_17216insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+100_3099+101insCT MANE Select ENSP00000347507.3:n.3099+100_3099+101insCT
ENST00000355349.3:c.3099+100_3099+101insCT ENSP00000347507.3:n.3099+100_3099+101insCT
NM_000257.3:c.3099+100_3099+101insCT NP_000248.2:n.3099+100_3099+101insCT
XR_245686.3:n.3205+100_3205+101insCT
XM_017021340.1:c.3099+100_3099+101insCT XP_016876829.1:n.3099+100_3099+101insCT
NM_000257.4:c.3099+100_3099+101insCT MANE Select NP_000248.2:n.3099+100_3099+101insCT