Canonical Allele Identifier: CA2657597910

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697539-G-GCGCAGCCCCGCGGCACCGGAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697540_50697541insGCAGCCCCGCGGCACCGGAGCCC , CM000684.2:g.50697540_50697541insGCAGCCCCGCGGCACCGGAGCCC	GRCh38
NC_000022.10:g.51135968_51135969insGCAGCCCCGCGGCACCGGAGCCC , CM000684.1:g.51135968_51135969insGCAGCCCCGCGGCACCGGAGCCC	GRCh37
NC_000022.9:g.49482834_49482835insGCAGCCCCGCGGCACCGGAGCCC	NCBI36
NG_008607.2:g.27899_27900insGCAGCCCCGCGGCACCGGAGCCC
NG_070230.1:g.33118_33119insGCAGCCCCGCGGCACCGGAGCCC

Transcript Alleles

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