Canonical Allele Identifier: CA1139663386
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 934193
ClinVar RCV Id: RCV001202536
dbSNP Id: rs1892506869
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422314_23422325del , CM000676.2:g.23422314_23422325del GRCh38
NC_000014.8:g.23891523_23891534del , CM000676.1:g.23891523_23891534del GRCh37
NC_000014.7:g.22961363_22961374del NCBI36
NG_007884.1:g.18342_18353del , LRG_384:g.18342_18353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3105_3116del MANE Select ENSP00000347507.3:p.Gly1036_Glu1039del
ENST00000355349.3:c.3105_3116del ENSP00000347507.3:p.Gly1036_Glu1039del
NM_000257.3:c.3105_3116del NP_000248.2:p.Gly1036_Glu1039del
XR_245686.3:n.3211_3222del
XM_017021340.1:c.3105_3116del XP_016876829.1:p.Gly1036_Glu1039del
NM_000257.4:c.3105_3116del MANE Select NP_000248.2:p.Gly1036_Glu1039del
Search 100 bp 5'
Search 100 bp 3'