Canonical Allele Identifier: CA257827118
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs993698404
gnomAD v4: 14-23434049-AC-A
MyVariant Identifiers: chr14:g.23903259del (hg19) chr14:g.23434050del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434054del , CM000676.2:g.23434054del GRCh38
NC_000014.8:g.23903263del , CM000676.1:g.23903263del GRCh37
NC_000014.7:g.22973103del NCBI36
NG_007884.1:g.6612del , LRG_384:g.6612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+144del MANE Select ENSP00000347507.3:n.-9+144del
ENST00000355349.3:c.-9+144del ENSP00000347507.3:n.-9+144del
NM_000257.3:c.-9+144del NP_000248.2:n.-9+144del
XR_245686.3:n.98+144del
XM_017021340.1:c.-8-310del XP_016876829.1:n.-8-310del
NM_000257.4:c.-9+144del MANE Select NP_000248.2:n.-9+144del
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