Canonical Allele Identifier: CA612937362
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1255711985
gnomAD v2: 14-23892696-AGAGCTCTGGG-A
gnomAD v3: 14-23423487-AGAGCTCTGGG-A
gnomAD v4: 14-23423487-AGAGCTCTGGG-A
MyVariant Identifiers: chr14:g.23892697_23892706del (hg19) chr14:g.23423488_23423497del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423488_23423497del , CM000676.2:g.23423488_23423497del GRCh38
NC_000014.8:g.23892697_23892706del , CM000676.1:g.23892697_23892706del GRCh37
NC_000014.7:g.22962537_22962546del NCBI36
NG_007884.1:g.17165_17174del , LRG_384:g.17165_17174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+50_3099+59del MANE Select ENSP00000347507.3:n.3099+50_3099+59del
ENST00000355349.3:c.3099+50_3099+59del ENSP00000347507.3:n.3099+50_3099+59del
NM_000257.3:c.3099+50_3099+59del NP_000248.2:n.3099+50_3099+59del
XR_245686.3:n.3205+50_3205+59del
XM_017021340.1:c.3099+50_3099+59del XP_016876829.1:n.3099+50_3099+59del
NM_000257.4:c.3099+50_3099+59del MANE Select NP_000248.2:n.3099+50_3099+59del
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