Canonical Allele Identifier: CA2697553891
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2702266
ClinVar RCV Id: RCV003586646
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413757del , CM000676.2:g.23413757del GRCh38
NC_000014.8:g.23882966del , CM000676.1:g.23882966del GRCh37
NC_000014.7:g.22952806del NCBI36
NG_007884.1:g.26905del , LRG_384:g.26905del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5790+2del MANE Select ENSP00000347507.3:n.5790+2del
ENST00000355349.3:c.5790+2del ENSP00000347507.3:n.5790+2del
NM_000257.3:c.5790+2del NP_000248.2:n.5790+2del
XM_017021340.1:c.5790+2del XP_016876829.1:n.5790+2del
NM_000257.4:c.5790+2del MANE Select NP_000248.2:n.5790+2del
Search 100 bp 5'
Search 100 bp 3'