Canonical Allele Identifier: CA640358932

Gene: SHANK3

Linked Data

• dbSNP Id: rs1449345991
• gnomAD v2: 22-51135934-C-CGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG
• gnomAD v3: 22-50697506-C-CGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG
• gnomAD v4: 22-50697506-C-CGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG
• MyVariant Identifiers: chr22:g.51135934_51135935insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG (hg19) ; chr22:g.50697506_50697507insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697506_50697507insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG , CM000684.2:g.50697506_50697507insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG	GRCh38
NC_000022.10:g.51135934_51135935insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG , CM000684.1:g.51135934_51135935insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG	GRCh37
NC_000022.9:g.49482800_49482801insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG	NCBI36
NG_008607.2:g.27865_27866insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG
NG_070230.1:g.33084_33085insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-58_948-57insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG	ENSP00000489147.2:n.948-58_948-57insGGGCGCTGCGGCGGCGGCTGCGGTG...
ENST00000414786.7:n.1532-58_1532-57insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG
ENST00000673971.2:c.1305-58_1305-57insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG	ENSP00000501192.1:n.1305-58_1305-57insGGGCGCTGCGGCGGCGGCTGCGG...
ENST00000262795.6:c.948-58_948-57insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG	ENSP00000489147.2:n.948-58_948-57insGGGCGCTGCGGCGGCGGCTGCGGTG...
ENST00000673971.1:c.1305-58_1305-57insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG	ENSP00000501192.1:n.1305-58_1305-57insGGGCGCTGCGGCGGCGGCTGCGG...
ENST00000262795.5:c.1345-59_1345-58insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG	ENSP00000489147.1:n.1345-59_1345-58insGGGCGCTGCGGCGGCGGCTGCGG...
ENST00000414786.6:n.1532-58_1532-57insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG
ENST00000445220.5:c.1326-58_1326-57insGGGCGCTGCGGCGGCGGCTGCGGTGAGGCCGGCGGCGGGGCCGGGCCG	ENSP00000489407.1:n.1326-58_1326-57insGGGCGCTGCGGCGGCGGCTGCGG...