Canonical Allele Identifier: CA2624250385
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23430817-GGCAT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430820_23430823del , CM000676.2:g.23430820_23430823del GRCh38
NC_000014.8:g.23900029_23900032del , CM000676.1:g.23900029_23900032del GRCh37
NC_000014.7:g.22969869_22969872del NCBI36
NG_007884.1:g.9841_9844del , LRG_384:g.9841_9844del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.895+80_895+83del MANE Select ENSP00000347507.3:n.895+80_895+83del
ENST00000355349.3:c.895+80_895+83del ENSP00000347507.3:n.895+80_895+83del
NM_000257.3:c.895+80_895+83del NP_000248.2:n.895+80_895+83del
XR_245686.3:n.1001+80_1001+83del
XM_017021340.1:c.895+80_895+83del XP_016876829.1:n.895+80_895+83del
NM_000257.4:c.895+80_895+83del MANE Select NP_000248.2:n.895+80_895+83del
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