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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489407.2:p.[Tyr482_Gly486delinsThrProThrTrp;Phe488Pro;Ser491_Phe493delinsPro;Pro495Ser;Lys497_Arg500delinsLeuArgProSer;Lys502del;Pro504_Val511delinsAlaAlaArgAlaProTrp]
CA325578189
ENST00000445220.7:c.1443del
CA2657583368
ENST00000445220.7:c.1444del