Canonical Allele Identifier: CA2592022306

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697540-C-CGCAGCCCCGCGGCCCCGGAGCCCTGAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGTGAGGCCGGCGGCGGGGCCGGGCCGCGCGCCA
• gnomAD v4: 22-50697540-C-CGCAGCCCCGCGGCCCCGGAGCCCTGAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGTGAGGCCGGCGGCGGGGCCGGGCCGCGCGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697540_50697541insGCAGCCCCGCGGCCCCGGAGCCCTGAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGTGAGGCCGGCGGCGGGGCCGGGCCGCGCGCCA , CM000684.2:g.50697540_50697541insGCAGCCCCGCGGCCCCGGAGCCCTGAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGTGAGGCCGGCGGCGGGGCCGGGCCGCGCGCCA	GRCh38
NC_000022.10:g.51135968_51135969insGCAGCCCCGCGGCCCCGGAGCCCTGAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGTGAGGCCGGCGGCGGGGCCGGGCCGCGCGCCA , CM000684.1:g.51135968_51135969insGCAGCCCCGCGGCCCCGGAGCCCTGAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGTGAGGCCGGCGGCGGGGCCGGGCCGCGCGCCA	GRCh37
NC_000022.9:g.49482834_49482835insGCAGCCCCGCGGCCCCGGAGCCCTGAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGTGAGGCCGGCGGCGGGGCCGGGCCGCGCGCCA	NCBI36

Transcript Alleles

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