Canonical Allele Identifier: CA2499222571
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1051155
ClinVar RCV Id: RCV001359153
dbSNP Id: rs2138639172
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415370_23415375del , CM000676.2:g.23415370_23415375del GRCh38
NC_000014.8:g.23884579_23884584del , CM000676.1:g.23884579_23884584del GRCh37
NC_000014.7:g.22954419_22954424del NCBI36
NG_007884.1:g.25287_25292del , LRG_384:g.25287_25292del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5283+6_5283+11del MANE Select ENSP00000347507.3:n.5283+6_5283+11del
ENST00000355349.3:c.5283+6_5283+11del ENSP00000347507.3:n.5283+6_5283+11del
NM_000257.3:c.5283+6_5283+11del NP_000248.2:n.5283+6_5283+11del
XM_017021340.1:c.5283+6_5283+11del XP_016876829.1:n.5283+6_5283+11del
NM_000257.4:c.5283+6_5283+11del MANE Select NP_000248.2:n.5283+6_5283+11del
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