Canonical Allele Identifier: CA2624235537
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23423452-C-CACACACAT
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423459_23423460insTACACACA , CM000676.2:g.23423459_23423460insTACACACA GRCh38
NC_000014.8:g.23892668_23892669insTACACACA , CM000676.1:g.23892668_23892669insTACACACA GRCh37
NC_000014.7:g.22962508_22962509insTACACACA NCBI36
NG_007884.1:g.17209_17210insATGTGTGT , LRG_384:g.17209_17210insATGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+94_3099+95insATGTGTGT MANE Select ENSP00000347507.3:n.3099+94_3099+95insATGTGTGT
ENST00000355349.3:c.3099+94_3099+95insATGTGTGT ENSP00000347507.3:n.3099+94_3099+95insATGTGTGT
NM_000257.3:c.3099+94_3099+95insATGTGTGT NP_000248.2:n.3099+94_3099+95insATGTGTGT
XR_245686.3:n.3205+94_3205+95insATGTGTGT
XM_017021340.1:c.3099+94_3099+95insATGTGTGT XP_016876829.1:n.3099+94_3099+95insATGTGTGT
NM_000257.4:c.3099+94_3099+95insATGTGTGT MANE Select NP_000248.2:n.3099+94_3099+95insATGTGTGT
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