This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: MYO7A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000386635.2:p.Lys2166_Ter2167insSerThrValThrGlyArgCysTrpPheHisAlaCysSerArgGlySerSerGlyPheArgProIleSerTyrProCysSerTrpGlyArgLeuMetProSerArgGlnArgGlyTrpAlaGlyGlnProProLeuThrIleProThrGlyProLeuMetPhePheGln
CA381939565
ENST00000409619.6:c.6500G>C