Canonical Allele Identifier: CA913184869
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773968
ClinVar RCV Id: RCV003532730
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431602_23431604del , CM000676.2:g.23431602_23431604del GRCh38
NC_000014.8:g.23900811_23900813del , CM000676.1:g.23900811_23900813del GRCh37
NC_000014.7:g.22970651_22970653del NCBI36
NG_007884.1:g.9060_9062del , LRG_384:g.9060_9062del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.715_717del MANE Select ENSP00000347507.3:p.Asp239del
ENST00000355349.3:c.715_717del ENSP00000347507.3:p.Asp239del
NM_000257.3:c.715_717del NP_000248.2:p.Asp239del
XR_245686.3:n.821_823del
XM_017021340.1:c.715_717del XP_016876829.1:p.Asp239del
NM_000257.4:c.715_717del MANE Select NP_000248.2:p.Asp239del
Search 100 bp 5'
Search 100 bp 3'