Canonical Allele Identifier: CA2410995339
Gene: SHANK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697562T= , CM000684.2:g.50697562T= GRCh38
NC_000022.10:g.51135990T= , CM000684.1:g.51135990T= GRCh37
NC_000022.9:g.49482856T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-2T= ENSP00000489147.2:n.948-2T=
ENST00000414786.7:n.1532-2T=
ENST00000673971.2:c.1305-2T= ENSP00000501192.1:n.1305-2T=
ENST00000262795.6:c.948-2T= ENSP00000489147.2:n.948-2T=
ENST00000673971.1:c.1305-2T= ENSP00000501192.1:n.1305-2T=
ENST00000262795.5:c.1345-3T= ENSP00000489147.1:n.1345-3T=
ENST00000414786.6:n.1532-2T=
ENST00000445220.5:c.1326-2T= ENSP00000489407.1:n.1326-2T=
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