Canonical Allele Identifier: CA2624235574
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23423467-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423468del , CM000676.2:g.23423468del GRCh38
NC_000014.8:g.23892677del , CM000676.1:g.23892677del GRCh37
NC_000014.7:g.22962517del NCBI36
NG_007884.1:g.17194del , LRG_384:g.17194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+79del MANE Select ENSP00000347507.3:n.3099+79del
ENST00000355349.3:c.3099+79del ENSP00000347507.3:n.3099+79del
NM_000257.3:c.3099+79del NP_000248.2:n.3099+79del
XR_245686.3:n.3205+79del
XM_017021340.1:c.3099+79del XP_016876829.1:n.3099+79del
NM_000257.4:c.3099+79del MANE Select NP_000248.2:n.3099+79del
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