Canonical Allele Identifier: CA2800863522
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424228_23424229insGAAGGAGGAGTT , CM000676.2:g.23424228_23424229insGAAGGAGGAGTT GRCh38
NC_000014.8:g.23893437_23893438insGAAGGAGGAGTT , CM000676.1:g.23893437_23893438insGAAGGAGGAGTT GRCh37
NC_000014.7:g.22963277_22963278insGAAGGAGGAGTT NCBI36
NG_007884.1:g.16434_16435insACTCCTCCTTCA , LRG_384:g.16434_16435insACTCCTCCTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2680-79_2680-78insACTCCTCCTTCA MANE Select ENSP00000347507.3:n.2680-79_2680-78insACTCCTCCTTCA
ENST00000355349.3:c.2680-79_2680-78insACTCCTCCTTCA ENSP00000347507.3:n.2680-79_2680-78insACTCCTCCTTCA
NM_000257.3:c.2680-79_2680-78insACTCCTCCTTCA NP_000248.2:n.2680-79_2680-78insACTCCTCCTTCA
XR_245686.3:n.2786-79_2786-78insACTCCTCCTTCA
XM_017021340.1:c.2680-79_2680-78insACTCCTCCTTCA XP_016876829.1:n.2680-79_2680-78insACTCCTCCTTCA
NM_000257.4:c.2680-79_2680-78insACTCCTCCTTCA MANE Select NP_000248.2:n.2680-79_2680-78insACTCCTCCTTCA