Canonical Allele Identifier: CA015751
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 42096
ClinVar RCV Id: RCV000034922 RCV000035952 RCV000628918
dbSNP Id: rs367543052
gnomAD v4: 14-23415475-ATCT-A
MyVariant Identifiers: chr14:g.23884685_23884687del (hg19) chr14:g.23415476_23415478del (hg38)
PubMed: PMID:12975303 PMID:15322983 PMID:20301436 PMID:20301606 PMID:20733148 PMID:21395566
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415485_23415487del , CM000676.2:g.23415485_23415487del GRCh38
NC_000014.8:g.23884694_23884696del , CM000676.1:g.23884694_23884696del GRCh37
NC_000014.7:g.22954534_22954536del NCBI36
NG_007884.1:g.25184_25186del , LRG_384:g.25184_25186del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5186_5188del (MYH7) MANE Select ENSP00000347507.3:p.Lys1729del
ENST00000355349.3:c.5186_5188del (MYH7) ENSP00000347507.3:p.Lys1729del
NM_000257.3:c.5186_5188del (MYH7) NP_000248.2:p.Lys1729del
NR_126491.1:n.36_38del (MHRT)
XM_017021340.1:c.5186_5188del (MYH7) XP_016876829.1:p.Lys1729del
NM_000257.4:c.5186_5188del (MYH7) MANE Select NP_000248.2:p.Lys1729del
Search 100 bp 5'
Search 100 bp 3'