Canonical Allele Identifier: CA345751
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 143217
ClinVar RCV Id: RCV000132757
dbSNP Id: rs367543052
MyVariant Identifiers: chr14:g.23884685_23884687dupTCT (hg19) chr14:g.23884684_23884685insTCT (hg19) chr14:g.23415476_23415478dupTCT (hg38) chr14:g.23415475_23415476insTCT (hg38)
PubMed: PMID:20301606 PMID:24664454
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415485_23415487dup , CM000676.2:g.23415485_23415487dup GRCh38
NC_000014.8:g.23884694_23884696dup , CM000676.1:g.23884694_23884696dup GRCh37
NC_000014.7:g.22954534_22954536dup NCBI36
NG_007884.1:g.25184_25186dup , LRG_384:g.25184_25186dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5186_5188dup (MYH7) MANE Select ENSP00000347507.3:p.Lys1729_Met1730insLys...
ENST00000355349.3:c.5186_5188dup (MYH7) ENSP00000347507.3:p.Lys1729_Met1730insLys...
NM_000257.3:c.5186_5188dup (MYH7) NP_000248.2:p.Lys1729_Met1730insLys
NR_126491.1:n.36_38dup (MHRT)
XM_017021340.1:c.5186_5188dup (MYH7) XP_016876829.1:p.Lys1729_Met1730insLys
NM_000257.4:c.5186_5188dup (MYH7) MANE Select NP_000248.2:p.Lys1729_Met1730insLys
Search 100 bp 5'
Search 100 bp 3'