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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000345193.7:p.[Ile1179_Gln1181delinsSerGlnSer;Pro1183del;Asn1186_His1195delinsLeuLeuGlnLeuAsn;Trp1197Ser;Lys1199_Asp1204delinsCysGlyLeuAsnGlnMet;Leu1206_Leu1211delinsProIleGlyTrpLysVal]
CA600241157
ENST00000338508.9:c.3534_3543del