Canonical Allele Identifier: CA612937364
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v2: 14-23892698-AG-A
gnomAD v3: 14-23423489-AG-A
gnomAD v4: 14-23423489-AG-A
MyVariant Identifiers: chr14:g.23892699_23892706delinsCTCTGGG (hg19) chr14:g.23423490_23423497delinsCTCTGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423490del , CM000676.2:g.23423490del GRCh38
NC_000014.8:g.23892699del , CM000676.1:g.23892699del GRCh37
NC_000014.7:g.22962539del NCBI36
NG_007884.1:g.17172del , LRG_384:g.17172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+57del MANE Select ENSP00000347507.3:n.3099+57del
ENST00000355349.3:c.3099+57del ENSP00000347507.3:n.3099+57del
NM_000257.3:c.3099+57del NP_000248.2:n.3099+57del
XR_245686.3:n.3205+57del
XM_017021340.1:c.3099+57del XP_016876829.1:n.3099+57del
NM_000257.4:c.3099+57del MANE Select NP_000248.2:n.3099+57del
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