Canonical Allele Identifier: CA2410995288
Gene: SHANK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697528C= , CM000684.2:g.50697528C= GRCh38
NC_000022.10:g.51135956C= , CM000684.1:g.51135956C= GRCh37
NC_000022.9:g.49482822C= NCBI36
NG_008607.2:g.27887C=
NG_070230.1:g.33106C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-36C= ENSP00000489147.2:n.948-36C=
ENST00000414786.7:n.1532-36C=
ENST00000673971.2:c.1305-36C= ENSP00000501192.1:n.1305-36C=
ENST00000262795.6:c.948-36C= ENSP00000489147.2:n.948-36C=
ENST00000673971.1:c.1305-36C= ENSP00000501192.1:n.1305-36C=
ENST00000262795.5:c.1345-37C= ENSP00000489147.1:n.1345-37C=
ENST00000414786.6:n.1532-36C=
ENST00000445220.5:c.1326-36C= ENSP00000489407.1:n.1326-36C=
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