Canonical Allele Identifier: CA2123452730

Gene: MYH7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423432_23423436delinsCACAA , CM000676.2:g.23423432_23423436delinsCACAA	GRCh38
NC_000014.8:g.23892641_23892645delinsCACAA , CM000676.1:g.23892641_23892645delinsCACAA	GRCh37
NC_000014.7:g.22962481_22962485delinsCACAA	NCBI36
NG_007884.1:g.17226_17230delinsTTGTG , LRG_384:g.17226_17230delinsTTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+111_3099+115delinsTTGTG MANE Select	ENSP00000347507.3:n.3099+111_3099+115delinsTTGTG
ENST00000355349.3:c.3099+111_3099+115delinsTTGTG	ENSP00000347507.3:n.3099+111_3099+115delinsTTGTG
NM_000257.3:c.3099+111_3099+115delinsTTGTG	NP_000248.2:n.3099+111_3099+115delinsTTGTG
XR_245686.3:n.3205+111_3205+115delinsTTGTG
XM_017021340.1:c.3099+111_3099+115delinsTTGTG	XP_016876829.1:n.3099+111_3099+115delinsTTGTG
NM_000257.4:c.3099+111_3099+115delinsTTGTG MANE Select	NP_000248.2:n.3099+111_3099+115delinsTTGTG