Canonical Allele Identifier: CA2123451306

Gene: MYH7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23431394_23431411delinsGCCTAGCAGATTCATGGC , CM000676.2:g.23431394_23431411delinsGCCTAGCAGATTCATGGC	GRCh38
NC_000014.8:g.23900603_23900620delinsGCCTAGCAGATTCATGGC , CM000676.1:g.23900603_23900620delinsGCCTAGCAGATTCATGGC	GRCh37
NC_000014.7:g.22970443_22970460delinsGCCTAGCAGATTCATGGC	NCBI36
NG_007884.1:g.9251_9268delinsGCCATGAATCTGCTAGGC , LRG_384:g.9251_9268delinsGCCATGAATCTGCTAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.796+7_796+24delinsGCCATGAATCTGCTAGGC MANE Select	ENSP00000347507.3:n.796+7_796+24delinsGCCATGAATCTGCTAGGC
ENST00000355349.3:c.796+7_796+24delinsGCCATGAATCTGCTAGGC	ENSP00000347507.3:n.796+7_796+24delinsGCCATGAATCTGCTAGGC
NM_000257.3:c.796+7_796+24delinsGCCATGAATCTGCTAGGC	NP_000248.2:n.796+7_796+24delinsGCCATGAATCTGCTAGGC
XR_245686.3:n.902+7_902+24delinsGCCATGAATCTGCTAGGC
XM_017021340.1:c.796+7_796+24delinsGCCATGAATCTGCTAGGC	XP_016876829.1:n.796+7_796+24delinsGCCATGAATCTGCTAGGC
NM_000257.4:c.796+7_796+24delinsGCCATGAATCTGCTAGGC MANE Select	NP_000248.2:n.796+7_796+24delinsGCCATGAATCTGCTAGGC