Canonical Allele Identifier: CA2695219050
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415083_23415084delinsCA , CM000676.2:g.23415083_23415084delinsCA GRCh38
NC_000014.8:g.23884292_23884293delinsCA , CM000676.1:g.23884292_23884293delinsCA GRCh37
NC_000014.7:g.22954132_22954133delinsCA NCBI36
NG_007884.1:g.25578_25579delinsTG , LRG_384:g.25578_25579delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5470_5471delinsTG MANE Select ENSP00000347507.3:p.Asn1824Cys
ENST00000355349.3:c.5470_5471delinsTG ENSP00000347507.3:p.Asn1824Cys
NM_000257.3:c.5470_5471delinsTG NP_000248.2:p.Asn1824Cys
XM_017021340.1:c.5470_5471delinsTG XP_016876829.1:p.Asn1824Cys
NM_000257.4:c.5470_5471delinsTG MANE Select NP_000248.2:p.Asn1824Cys
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