Canonical Allele Identifier: CA2624235547
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23423454-C-CACACAT
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423459_23423460insTACACA , CM000676.2:g.23423459_23423460insTACACA GRCh38
NC_000014.8:g.23892668_23892669insTACACA , CM000676.1:g.23892668_23892669insTACACA GRCh37
NC_000014.7:g.22962508_22962509insTACACA NCBI36
NG_007884.1:g.17207_17208insATGTGT , LRG_384:g.17207_17208insATGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+92_3099+93insATGTGT MANE Select ENSP00000347507.3:n.3099+92_3099+93insATGTGT
ENST00000355349.3:c.3099+92_3099+93insATGTGT ENSP00000347507.3:n.3099+92_3099+93insATGTGT
NM_000257.3:c.3099+92_3099+93insATGTGT NP_000248.2:n.3099+92_3099+93insATGTGT
XR_245686.3:n.3205+92_3205+93insATGTGT
XM_017021340.1:c.3099+92_3099+93insATGTGT XP_016876829.1:n.3099+92_3099+93insATGTGT
NM_000257.4:c.3099+92_3099+93insATGTGT MANE Select NP_000248.2:n.3099+92_3099+93insATGTGT
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