Canonical Allele Identifier: CA640358999

Gene: SHANK3

Linked Data

• dbSNP Id: rs1555907939
• gnomAD v2: 22-51135981-C-CGCTGGCGG
• gnomAD v3: 22-50697553-C-CGCTGGCGG
• gnomAD v4: 22-50697553-C-CGCTGGCGG
• MyVariant Identifiers: chr22:g.51135981_51135982insGCTGGCGG (hg19) ; chr22:g.50697553_50697554insGCTGGCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697554_50697555insCTGGCGGG , CM000684.2:g.50697554_50697555insCTGGCGGG	GRCh38
NC_000022.10:g.51135982_51135983insCTGGCGGG , CM000684.1:g.51135982_51135983insCTGGCGGG	GRCh37
NC_000022.9:g.49482848_49482849insCTGGCGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-10_948-9insCTGGCGGG	ENSP00000489147.2:n.948-10_948-9insCTGGCGGG
ENST00000414786.7:n.1532-10_1532-9insCTGGCGGG
ENST00000673971.2:c.1305-10_1305-9insCTGGCGGG	ENSP00000501192.1:n.1305-10_1305-9insCTGGCGGG
ENST00000262795.6:c.948-10_948-9insCTGGCGGG	ENSP00000489147.2:n.948-10_948-9insCTGGCGGG
ENST00000673971.1:c.1305-10_1305-9insCTGGCGGG	ENSP00000501192.1:n.1305-10_1305-9insCTGGCGGG
ENST00000262795.5:c.1345-11_1345-10insCTGGCGGG	ENSP00000489147.1:n.1345-11_1345-10insCTGGCGGG
ENST00000414786.6:n.1532-10_1532-9insCTGGCGGG
ENST00000445220.5:c.1326-10_1326-9insCTGGCGGG	ENSP00000489407.1:n.1326-10_1326-9insCTGGCGGG