Canonical Allele Identifier: CA1139663388
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 983521
ClinVar RCV Id: RCV001263484
dbSNP Id: rs1892625481
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424793_23424886del , CM000676.2:g.23424793_23424886del GRCh38
NC_000014.8:g.23894002_23894095del , CM000676.1:g.23894002_23894095del GRCh37
NC_000014.7:g.22963842_22963935del NCBI36
NG_007884.1:g.15777_15870del , LRG_384:g.15777_15870del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2563_2656del MANE Select ENSP00000347507.3:p.Glu855ThrfsTer23
ENST00000355349.3:c.2563_2656del ENSP00000347507.3:p.Glu855ThrfsTer23
NM_000257.3:c.2563_2656del NP_000248.2:p.Glu855ThrfsTer23
XR_245686.3:n.2669_2762del
XM_017021340.1:c.2563_2656del XP_016876829.1:p.Glu855ThrfsTer23
NM_000257.4:c.2563_2656del MANE Select NP_000248.2:p.Glu855ThrfsTer23
Search 100 bp 5'
Search 100 bp 3'