Canonical Allele Identifier: CA2624254938
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23433775-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433778del , CM000676.2:g.23433778del GRCh38
NC_000014.8:g.23902987del , CM000676.1:g.23902987del GRCh37
NC_000014.7:g.22972827del NCBI36
NG_007884.1:g.6886del , LRG_384:g.6886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-8-36del MANE Select ENSP00000347507.3:n.-8-36del
ENST00000355349.3:c.-8-36del ENSP00000347507.3:n.-8-36del
NM_000257.3:c.-8-36del NP_000248.2:n.-8-36del
XR_245686.3:n.99-36del
XM_017021340.1:c.-8-36del XP_016876829.1:n.-8-36del
NM_000257.4:c.-8-36del MANE Select NP_000248.2:n.-8-36del
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