Canonical Allele Identifier: CA2657597967

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697540-C-CGCAGCCCCGAGGCCCCGGAGCCCTGAGCGGGCGCGGCTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697540_50697541insGCAGCCCCGAGGCCCCGGAGCCCTGAGCGGGCGCGGCTCG , CM000684.2:g.50697540_50697541insGCAGCCCCGAGGCCCCGGAGCCCTGAGCGGGCGCGGCTCG	GRCh38
NC_000022.10:g.51135968_51135969insGCAGCCCCGAGGCCCCGGAGCCCTGAGCGGGCGCGGCTCG , CM000684.1:g.51135968_51135969insGCAGCCCCGAGGCCCCGGAGCCCTGAGCGGGCGCGGCTCG	GRCh37
NC_000022.9:g.49482834_49482835insGCAGCCCCGAGGCCCCGGAGCCCTGAGCGGGCGCGGCTCG	NCBI36

Transcript Alleles

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