Canonical Allele Identifier: CA2123456446
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433957_23433958delinsTG , CM000676.2:g.23433957_23433958delinsTG GRCh38
NC_000014.8:g.23903166_23903167delinsTG , CM000676.1:g.23903166_23903167delinsTG GRCh37
NC_000014.7:g.22973006_22973007delinsTG NCBI36
NG_007884.1:g.6704_6705delinsCA , LRG_384:g.6704_6705delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-8-218_-8-217delinsCA MANE Select ENSP00000347507.3:n.-8-218_-8-217delinsCA
ENST00000355349.3:c.-8-218_-8-217delinsCA ENSP00000347507.3:n.-8-218_-8-217delinsCA
NM_000257.3:c.-8-218_-8-217delinsCA NP_000248.2:n.-8-218_-8-217delinsCA
XR_245686.3:n.99-218_99-217delinsCA
XM_017021340.1:c.-8-218_-8-217delinsCA XP_016876829.1:n.-8-218_-8-217delinsCA
NM_000257.4:c.-8-218_-8-217delinsCA MANE Select NP_000248.2:n.-8-218_-8-217delinsCA