Canonical Allele Identifier: CA961074479
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892562388
gnomAD v3: 14-23423443-AC-A
gnomAD v4: 14-23423443-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423444del , CM000676.2:g.23423444del GRCh38
NC_000014.8:g.23892653del , CM000676.1:g.23892653del GRCh37
NC_000014.7:g.22962493del NCBI36
NG_007884.1:g.17218del , LRG_384:g.17218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+103del MANE Select ENSP00000347507.3:n.3099+103del
ENST00000355349.3:c.3099+103del ENSP00000347507.3:n.3099+103del
NM_000257.3:c.3099+103del NP_000248.2:n.3099+103del
XR_245686.3:n.3205+103del
XM_017021340.1:c.3099+103del XP_016876829.1:n.3099+103del
NM_000257.4:c.3099+103del MANE Select NP_000248.2:n.3099+103del
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