Canonical Allele Identifier: CA2123450349
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430914_23430915delinsCT , CM000676.2:g.23430914_23430915delinsCT GRCh38
NC_000014.8:g.23900123_23900124delinsCT , CM000676.1:g.23900123_23900124delinsCT GRCh37
NC_000014.7:g.22969963_22969964delinsCT NCBI36
NG_007884.1:g.9747_9748delinsAG , LRG_384:g.9747_9748delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.881_882delinsAG MANE Select ENSP00000347507.3:p.Lys294=
ENST00000355349.3:c.881_882delinsAG ENSP00000347507.3:p.Lys294=
NM_000257.3:c.881_882delinsAG NP_000248.2:p.Lys294=
XR_245686.3:n.987_988delinsAG
XM_017021340.1:c.881_882delinsAG XP_016876829.1:p.Lys294=
NM_000257.4:c.881_882delinsAG MANE Select NP_000248.2:p.Lys294=
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