Canonical Allele Identifier: CA2123457699
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413705_23413720delinsGTCTGGGTATGCCTGC , CM000676.2:g.23413705_23413720delinsGTCTGGGTATGCCTGC GRCh38
NC_000014.8:g.23882914_23882929delinsGTCTGGGTATGCCTGC , CM000676.1:g.23882914_23882929delinsGTCTGGGTATGCCTGC GRCh37
NC_000014.7:g.22952754_22952769delinsGTCTGGGTATGCCTGC NCBI36
NG_007884.1:g.26942_26957delinsGCAGGCATACCCAGAC , LRG_384:g.26942_26957delinsGCAGGCATACCCAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5790+39_5790+54delinsGCAGGCATACCCAGAC MANE Select ENSP00000347507.3:n.5790+39_5790+54delinsGCAGGCATACCCAGAC
ENST00000355349.3:c.5790+39_5790+54delinsGCAGGCATACCCAGAC ENSP00000347507.3:n.5790+39_5790+54delinsGCAGGCATACCCAGAC
NM_000257.3:c.5790+39_5790+54delinsGCAGGCATACCCAGAC NP_000248.2:n.5790+39_5790+54delinsGCAGGCATACCCAGAC
XM_017021340.1:c.5790+39_5790+54delinsGCAGGCATACCCAGAC XP_016876829.1:n.5790+39_5790+54delinsGCAGGCATACCCAGAC
NM_000257.4:c.5790+39_5790+54delinsGCAGGCATACCCAGAC MANE Select NP_000248.2:n.5790+39_5790+54delinsGCAGGCATACCCAGAC