Canonical Allele Identifier: CA2123456558
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434048_23434049delinsGA , CM000676.2:g.23434048_23434049delinsGA GRCh38
NC_000014.8:g.23903257_23903258delinsGA , CM000676.1:g.23903257_23903258delinsGA GRCh37
NC_000014.7:g.22973097_22973098delinsGA NCBI36
NG_007884.1:g.6613_6614delinsTC , LRG_384:g.6613_6614delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+145_-9+146delinsTC MANE Select ENSP00000347507.3:n.-9+145_-9+146delinsTC
ENST00000355349.3:c.-9+145_-9+146delinsTC ENSP00000347507.3:n.-9+145_-9+146delinsTC
NM_000257.3:c.-9+145_-9+146delinsTC NP_000248.2:n.-9+145_-9+146delinsTC
XR_245686.3:n.98+145_98+146delinsTC
XM_017021340.1:c.-8-309_-8-308delinsTC XP_016876829.1:n.-8-309_-8-308delinsTC
NM_000257.4:c.-9+145_-9+146delinsTC MANE Select NP_000248.2:n.-9+145_-9+146delinsTC
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