Canonical Allele Identifier: CA2123452902

Gene: MYH7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423487_23423497delinsAGAGCTCTGGG , CM000676.2:g.23423487_23423497delinsAGAGCTCTGGG	GRCh38
NC_000014.8:g.23892696_23892706delinsAGAGCTCTGGG , CM000676.1:g.23892696_23892706delinsAGAGCTCTGGG	GRCh37
NC_000014.7:g.22962536_22962546delinsAGAGCTCTGGG	NCBI36
NG_007884.1:g.17165_17175delinsCCCAGAGCTCT , LRG_384:g.17165_17175delinsCCCAGAGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+50_3099+60delinsCCCAGAGCTCT MANE Select	ENSP00000347507.3:n.3099+50_3099+60delinsCCCAGAGCTCT
ENST00000355349.3:c.3099+50_3099+60delinsCCCAGAGCTCT	ENSP00000347507.3:n.3099+50_3099+60delinsCCCAGAGCTCT
NM_000257.3:c.3099+50_3099+60delinsCCCAGAGCTCT	NP_000248.2:n.3099+50_3099+60delinsCCCAGAGCTCT
XR_245686.3:n.3205+50_3205+60delinsCCCAGAGCTCT
XM_017021340.1:c.3099+50_3099+60delinsCCCAGAGCTCT	XP_016876829.1:n.3099+50_3099+60delinsCCCAGAGCTCT
NM_000257.4:c.3099+50_3099+60delinsCCCAGAGCTCT MANE Select	NP_000248.2:n.3099+50_3099+60delinsCCCAGAGCTCT