Canonical Allele Identifier: CA916081717
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 854804
ClinVar RCV Id: RCV001059926 RCV003332294
dbSNP Id: rs1892815450
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429086_23429093del , CM000676.2:g.23429086_23429093del GRCh38
NC_000014.8:g.23898295_23898302del , CM000676.1:g.23898295_23898302del GRCh37
NC_000014.7:g.22968135_22968142del NCBI36
NG_007884.1:g.11575_11582del , LRG_384:g.11575_11582del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1275_1282del MANE Select ENSP00000347507.3:p.Ala426GlnfsTer5
ENST00000355349.3:c.1275_1282del ENSP00000347507.3:p.Ala426GlnfsTer5
NM_000257.3:c.1275_1282del NP_000248.2:p.Ala426GlnfsTer5
XR_245686.3:n.1381_1388del
XM_017021340.1:c.1275_1282del XP_016876829.1:p.Ala426GlnfsTer5
NM_000257.4:c.1275_1282del MANE Select NP_000248.2:p.Ala426GlnfsTer5
Search 100 bp 5'
Search 100 bp 3'