Canonical Allele Identifier: CA012760
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177867
ClinVar RCV Id: RCV000154505
dbSNP Id: rs727504368
MyVariant Identifiers: chr14:g.23894028_23894030del (hg19) chr14:g.23424819_23424821del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424822_23424824del , CM000676.2:g.23424822_23424824del GRCh38
NC_000014.8:g.23894031_23894033del , CM000676.1:g.23894031_23894033del GRCh37
NC_000014.7:g.22963871_22963873del NCBI36
NG_007884.1:g.15841_15843del , LRG_384:g.15841_15843del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2627_2629del MANE Select ENSP00000347507.3:p.Lys876del
ENST00000355349.3:c.2627_2629del ENSP00000347507.3:p.Lys876del
NM_000257.3:c.2627_2629del NP_000248.2:p.Lys876del
XR_245686.3:n.2733_2735del
XM_017021340.1:c.2627_2629del XP_016876829.1:p.Lys876del
NM_000257.4:c.2627_2629del MANE Select NP_000248.2:p.Lys876del
Search 100 bp 5'
Search 100 bp 3'