Canonical Allele Identifier: CA1026686958

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083088752
• gnomAD v3: 22-50697526-G-GCCC
• gnomAD v4: 22-50697526-G-GCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697526_50697527insCCC , CM000684.2:g.50697526_50697527insCCC	GRCh38
NC_000022.10:g.51135954_51135955insCCC , CM000684.1:g.51135954_51135955insCCC	GRCh37
NC_000022.9:g.49482820_49482821insCCC	NCBI36
NG_008607.2:g.27885_27886insCCC
NG_070230.1:g.33104_33105insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-38_948-37insCCC	ENSP00000489147.2:n.948-38_948-37insCCC
ENST00000414786.7:n.1532-38_1532-37insCCC
ENST00000673971.2:c.1305-38_1305-37insCCC	ENSP00000501192.1:n.1305-38_1305-37insCCC
ENST00000262795.6:c.948-38_948-37insCCC	ENSP00000489147.2:n.948-38_948-37insCCC
ENST00000673971.1:c.1305-38_1305-37insCCC	ENSP00000501192.1:n.1305-38_1305-37insCCC
ENST00000262795.5:c.1345-39_1345-38insCCC	ENSP00000489147.1:n.1345-39_1345-38insCCC
ENST00000414786.6:n.1532-38_1532-37insCCC
ENST00000445220.5:c.1326-38_1326-37insCCC	ENSP00000489407.1:n.1326-38_1326-37insCCC