Canonical Allele Identifier: CA1026687172

Gene: SHANK3

Linked Data

• dbSNP Id: rs1569105431
• gnomAD v3: 22-50697540-C-CGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG
• gnomAD v4: 22-50697540-C-CGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697540_50697541insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG , CM000684.2:g.50697540_50697541insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG	GRCh38
NC_000022.10:g.51135968_51135969insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG , CM000684.1:g.51135968_51135969insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG	GRCh37
NC_000022.9:g.49482834_49482835insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-24_948-23insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG	ENSP00000489147.2:n.948-24_948-23insGCAGCCCCGAGGCCCCGGGCGCCGG...
ENST00000414786.7:n.1532-24_1532-23insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG
ENST00000673971.2:c.1305-24_1305-23insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG	ENSP00000501192.1:n.1305-24_1305-23insGCAGCCCCGAGGCCCCGGGCGCC...
ENST00000262795.6:c.948-24_948-23insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG	ENSP00000489147.2:n.948-24_948-23insGCAGCCCCGAGGCCCCGGGCGCCGG...
ENST00000673971.1:c.1305-24_1305-23insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG	ENSP00000501192.1:n.1305-24_1305-23insGCAGCCCCGAGGCCCCGGGCGCC...
ENST00000262795.5:c.1345-25_1345-24insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG	ENSP00000489147.1:n.1345-25_1345-24insGCAGCCCCGAGGCCCCGGGCGCC...
ENST00000414786.6:n.1532-24_1532-23insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG
ENST00000445220.5:c.1326-24_1326-23insGCAGCCCCGAGGCCCCGGGCGCCGGCTTCGCG	ENSP00000489407.1:n.1326-24_1326-23insGCAGCCCCGAGGCCCCGGGCGCC...