Canonical Allele Identifier: CA2123451427
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773967
ClinVar RCV Id: RCV003532729 RCV003748508 RCV003885357
dbSNP Id: rs1892932325
gnomAD v4: 14-23431424-CTA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431426_23431427del , CM000676.2:g.23431426_23431427del GRCh38
NC_000014.8:g.23900635_23900636del , CM000676.1:g.23900635_23900636del GRCh37
NC_000014.7:g.22970475_22970476del NCBI36
NG_007884.1:g.9236_9237del , LRG_384:g.9236_9237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.788_789del MANE Select ENSP00000347507.3:p.Ile263ArgfsTer29
ENST00000355349.3:c.788_789del ENSP00000347507.3:p.Ile263ArgfsTer29
NM_000257.3:c.788_789del NP_000248.2:p.Ile263ArgfsTer29
XR_245686.3:n.894_895del
XM_017021340.1:c.788_789del XP_016876829.1:p.Ile263ArgfsTer29
NM_000257.4:c.788_789del MANE Select NP_000248.2:p.Ile263ArgfsTer29
Search 100 bp 5'
Search 100 bp 3'