Canonical Allele Identifier: CA2123450962
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422306_23422307delinsTG , CM000676.2:g.23422306_23422307delinsTG GRCh38
NC_000014.8:g.23891515_23891516delinsTG , CM000676.1:g.23891515_23891516delinsTG GRCh37
NC_000014.7:g.22961355_22961356delinsTG NCBI36
NG_007884.1:g.18355_18356delinsCA , LRG_384:g.18355_18356delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3118_3119delinsCA MANE Select ENSP00000347507.3:p.Gln1040=
ENST00000355349.3:c.3118_3119delinsCA ENSP00000347507.3:p.Gln1040=
NM_000257.3:c.3118_3119delinsCA NP_000248.2:p.Gln1040=
XR_245686.3:n.3224_3225delinsCA
XM_017021340.1:c.3118_3119delinsCA XP_016876829.1:p.Gln1040=
NM_000257.4:c.3118_3119delinsCA MANE Select NP_000248.2:p.Gln1040=