Canonical Allele Identifier: CA2123450558
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430978_23430980delinsACT , CM000676.2:g.23430978_23430980delinsACT GRCh38
NC_000014.8:g.23900187_23900189delinsACT , CM000676.1:g.23900187_23900189delinsACT GRCh37
NC_000014.7:g.22970027_22970029delinsACT NCBI36
NG_007884.1:g.9682_9684delinsAGT , LRG_384:g.9682_9684delinsAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.816_818delinsAGT MANE Select ENSP00000347507.3:p.Arg272=
ENST00000355349.3:c.816_818delinsAGT ENSP00000347507.3:p.Arg272=
NM_000257.3:c.816_818delinsAGT NP_000248.2:p.Arg272=
XR_245686.3:n.922_924delinsAGT
XM_017021340.1:c.816_818delinsAGT XP_016876829.1:p.Arg272=
NM_000257.4:c.816_818delinsAGT MANE Select NP_000248.2:p.Arg272=
Search 100 bp 5'
Search 100 bp 3'