Canonical Allele Identifier: CA2624232547
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23420328-AGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420329_23420330del , CM000676.2:g.23420329_23420330del GRCh38
NC_000014.8:g.23889538_23889539del , CM000676.1:g.23889538_23889539del GRCh37
NC_000014.7:g.22959378_22959379del NCBI36
NG_007884.1:g.20332_20333del , LRG_384:g.20332_20333del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3337-96_3337-95del MANE Select ENSP00000347507.3:n.3337-96_3337-95del
ENST00000355349.3:c.3337-96_3337-95del ENSP00000347507.3:n.3337-96_3337-95del
NM_000257.3:c.3337-96_3337-95del NP_000248.2:n.3337-96_3337-95del
XR_245686.3:n.3445-96_3445-95del
XM_017021340.1:c.3337-96_3337-95del XP_016876829.1:n.3337-96_3337-95del
NM_000257.4:c.3337-96_3337-95del MANE Select NP_000248.2:n.3337-96_3337-95del
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