Canonical Allele Identifier: CA015545
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 143216
ClinVar RCV Id: RCV000132756 RCV000819391 RCV003133146
dbSNP Id: rs587779394
MyVariant Identifiers: chr14:g.23884988_23884990del (hg19) chr14:g.23415779_23415781del (hg38)
PubMed: PMID:20301606 PMID:24664454
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415781_23415783del , CM000676.2:g.23415781_23415783del GRCh38
NC_000014.8:g.23884990_23884992del , CM000676.1:g.23884990_23884992del GRCh37
NC_000014.7:g.22954830_22954832del NCBI36
NG_007884.1:g.24881_24883del , LRG_384:g.24881_24883del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5005_5007del (MYH7) MANE Select ENSP00000347507.3:p.Glu1669del
ENST00000355349.3:c.5005_5007del (MYH7) ENSP00000347507.3:p.Glu1669del
NM_000257.3:c.5005_5007del (MYH7) NP_000248.2:p.Glu1669del
NR_126491.1:n.213_215del (MHRT)
XM_017021340.1:c.5005_5007del (MYH7) XP_016876829.1:p.Glu1669del
NM_000257.4:c.5005_5007del (MYH7) MANE Select NP_000248.2:p.Glu1669del
Search 100 bp 5'
Search 100 bp 3'