Canonical Allele Identifier: CA257819853
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs888961337
gnomAD v2: 14-23894817-TG-T
gnomAD v3: 14-23425608-TG-T
gnomAD v4: 14-23425608-TG-T
MyVariant Identifiers: chr14:g.23894818del (hg19) chr14:g.23425609del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425609del , CM000676.2:g.23425609del GRCh38
NC_000014.8:g.23894818del , CM000676.1:g.23894818del GRCh37
NC_000014.7:g.22964658del NCBI36
NG_007884.1:g.15053del , LRG_384:g.15053del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2286+86del MANE Select ENSP00000347507.3:n.2286+86del
ENST00000355349.3:c.2286+86del ENSP00000347507.3:n.2286+86del
NM_000257.3:c.2286+86del NP_000248.2:n.2286+86del
XR_245686.3:n.2392+86del
XM_017021340.1:c.2286+86del XP_016876829.1:n.2286+86del
NM_000257.4:c.2286+86del MANE Select NP_000248.2:n.2286+86del
Search 100 bp 5'
Search 100 bp 3'