Canonical Allele Identifier: CA2521255337
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423443_23423444insGACACA , CM000676.2:g.23423443_23423444insGACACA GRCh38
NC_000014.8:g.23892652_23892653insGACACA , CM000676.1:g.23892652_23892653insGACACA GRCh37
NC_000014.7:g.22962492_22962493insGACACA NCBI36
NG_007884.1:g.17223_17224insCTGTGT , LRG_384:g.17223_17224insCTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+108_3099+109insCTGTGT MANE Select ENSP00000347507.3:n.3099+108_3099+109insCTGTGT
ENST00000355349.3:c.3099+108_3099+109insCTGTGT ENSP00000347507.3:n.3099+108_3099+109insCTGTGT
NM_000257.3:c.3099+108_3099+109insCTGTGT NP_000248.2:n.3099+108_3099+109insCTGTGT
XR_245686.3:n.3205+108_3205+109insCTGTGT
XM_017021340.1:c.3099+108_3099+109insCTGTGT XP_016876829.1:n.3099+108_3099+109insCTGTGT
NM_000257.4:c.3099+108_3099+109insCTGTGT MANE Select NP_000248.2:n.3099+108_3099+109insCTGTGT