Canonical Allele Identifier: CA2577768298
Gene: SHANK3 HGNC NCBI

Linked Data

gnomAD v4: 22-50697490-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697490G>A , CM000684.2:g.50697490G>A GRCh38
NC_000022.10:g.51135918G>A , CM000684.1:g.51135918G>A GRCh37
NC_000022.9:g.49482784G>A NCBI36
NG_008607.2:g.27849G>A
NG_070230.1:g.33068G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.948-74G>A ENSP00000489147.2:n.948-74G>A
ENST00000414786.7:n.1532-74G>A
ENST00000673971.2:c.1305-74G>A ENSP00000501192.1:n.1305-74G>A
ENST00000262795.6:c.948-74G>A ENSP00000489147.2:n.948-74G>A
ENST00000673971.1:c.1305-74G>A ENSP00000501192.1:n.1305-74G>A
ENST00000262795.5:c.1345-75G>A ENSP00000489147.1:n.1345-75G>A
ENST00000414786.6:n.1532-74G>A
ENST00000445220.5:c.1326-74G>A ENSP00000489407.1:n.1326-74G>A
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