Canonical Allele Identifier: CA1026686686
Gene: SHANK3 HGNC NCBI

Linked Data

gnomAD v3: 22-50697494-G-GCT
gnomAD v4: 22-50697494-G-GCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697494_50697495insCT , CM000684.2:g.50697494_50697495insCT GRCh38
NC_000022.10:g.51135922_51135923insCT , CM000684.1:g.51135922_51135923insCT GRCh37
NC_000022.9:g.49482788_49482789insCT NCBI36
NG_008607.2:g.27853_27854insCT
NG_070230.1:g.33072_33073insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.948-70_948-69insCT ENSP00000489147.2:n.948-70_948-69insCT
ENST00000414786.7:n.1532-70_1532-69insCT
ENST00000673971.2:c.1305-70_1305-69insCT ENSP00000501192.1:n.1305-70_1305-69insCT
ENST00000262795.6:c.948-70_948-69insCT ENSP00000489147.2:n.948-70_948-69insCT
ENST00000673971.1:c.1305-70_1305-69insCT ENSP00000501192.1:n.1305-70_1305-69insCT
ENST00000262795.5:c.1345-71_1345-70insCT ENSP00000489147.1:n.1345-71_1345-70insCT
ENST00000414786.6:n.1532-70_1532-69insCT
ENST00000445220.5:c.1326-70_1326-69insCT ENSP00000489407.1:n.1326-70_1326-69insCT
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