Canonical Allele Identifier: CA2123458049

Gene: MYH7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23425651_23425653delinsGAA , CM000676.2:g.23425651_23425653delinsGAA	GRCh38
NC_000014.8:g.23894860_23894862delinsGAA , CM000676.1:g.23894860_23894862delinsGAA	GRCh37
NC_000014.7:g.22964700_22964702delinsGAA	NCBI36
NG_007884.1:g.15009_15011delinsTTC , LRG_384:g.15009_15011delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2286+42_2286+44delinsTTC MANE Select	ENSP00000347507.3:n.2286+42_2286+44delinsTTC
ENST00000355349.3:c.2286+42_2286+44delinsTTC	ENSP00000347507.3:n.2286+42_2286+44delinsTTC
NM_000257.3:c.2286+42_2286+44delinsTTC	NP_000248.2:n.2286+42_2286+44delinsTTC
XR_245686.3:n.2392+42_2392+44delinsTTC
XM_017021340.1:c.2286+42_2286+44delinsTTC	XP_016876829.1:n.2286+42_2286+44delinsTTC
NM_000257.4:c.2286+42_2286+44delinsTTC MANE Select	NP_000248.2:n.2286+42_2286+44delinsTTC