Canonical Allele Identifier: CA2580087892
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2130217
ClinVar RCV Id: RCV003050392
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431483del , CM000676.2:g.23431483del GRCh38
NC_000014.8:g.23900692del , CM000676.1:g.23900692del GRCh37
NC_000014.7:g.22970532del NCBI36
NG_007884.1:g.9179del , LRG_384:g.9179del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.733-2del MANE Select ENSP00000347507.3:n.733-2del
ENST00000355349.3:c.733-2del ENSP00000347507.3:n.733-2del
NM_000257.3:c.733-2del NP_000248.2:n.733-2del
XR_245686.3:n.839-2del
XM_017021340.1:c.733-2del XP_016876829.1:n.733-2del
NM_000257.4:c.733-2del MANE Select NP_000248.2:n.733-2del
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