Canonical Allele Identifier: CA2624235445
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23423448-C-CACACACAT
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423455_23423456insTACACACA , CM000676.2:g.23423455_23423456insTACACACA GRCh38
NC_000014.8:g.23892664_23892665insTACACACA , CM000676.1:g.23892664_23892665insTACACACA GRCh37
NC_000014.7:g.22962504_22962505insTACACACA NCBI36
NG_007884.1:g.17213_17214insATGTGTGT , LRG_384:g.17213_17214insATGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+98_3099+99insATGTGTGT MANE Select ENSP00000347507.3:n.3099+98_3099+99insATGTGTGT
ENST00000355349.3:c.3099+98_3099+99insATGTGTGT ENSP00000347507.3:n.3099+98_3099+99insATGTGTGT
NM_000257.3:c.3099+98_3099+99insATGTGTGT NP_000248.2:n.3099+98_3099+99insATGTGTGT
XR_245686.3:n.3205+98_3205+99insATGTGTGT
XM_017021340.1:c.3099+98_3099+99insATGTGTGT XP_016876829.1:n.3099+98_3099+99insATGTGTGT
NM_000257.4:c.3099+98_3099+99insATGTGTGT MANE Select NP_000248.2:n.3099+98_3099+99insATGTGTGT
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