Canonical Allele Identifier: CA2123462180
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415152_23415153delinsTC , CM000676.2:g.23415152_23415153delinsTC GRCh38
NC_000014.8:g.23884361_23884362delinsTC , CM000676.1:g.23884361_23884362delinsTC GRCh37
NC_000014.7:g.22954201_22954202delinsTC NCBI36
NG_007884.1:g.25509_25510delinsGA , LRG_384:g.25509_25510delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5401_5402delinsGA MANE Select ENSP00000347507.3:p.Glu1801=
ENST00000355349.3:c.5401_5402delinsGA ENSP00000347507.3:p.Glu1801=
NM_000257.3:c.5401_5402delinsGA NP_000248.2:p.Glu1801=
XM_017021340.1:c.5401_5402delinsGA XP_016876829.1:p.Glu1801=
NM_000257.4:c.5401_5402delinsGA MANE Select NP_000248.2:p.Glu1801=