Canonical Allele Identifier: CA1026686711

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697498-C-CGGG
• gnomAD v4: 22-50697498-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697500_50697502dup , CM000684.2:g.50697500_50697502dup	GRCh38
NC_000022.10:g.51135928_51135930dup , CM000684.1:g.51135928_51135930dup	GRCh37
NC_000022.9:g.49482794_49482796dup	NCBI36
NG_008607.2:g.27859_27861dup
NG_070230.1:g.33078_33080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-64_948-62dup	ENSP00000489147.2:n.948-64_948-62dup
ENST00000414786.7:n.1532-64_1532-62dup
ENST00000673971.2:c.1305-64_1305-62dup	ENSP00000501192.1:n.1305-64_1305-62dup
ENST00000262795.6:c.948-64_948-62dup	ENSP00000489147.2:n.948-64_948-62dup
ENST00000673971.1:c.1305-64_1305-62dup	ENSP00000501192.1:n.1305-64_1305-62dup
ENST00000262795.5:c.1345-65_1345-63dup	ENSP00000489147.1:n.1345-65_1345-63dup
ENST00000414786.6:n.1532-64_1532-62dup
ENST00000445220.5:c.1326-64_1326-62dup	ENSP00000489407.1:n.1326-64_1326-62dup