Canonical Allele Identifier: CA10325812

Gene: SHANK3

Linked Data

• dbSNP Id: rs781489714
• ExAC: 22:51153264 C / CG
• gnomAD v2: 22-51153264-C-CG
• gnomAD v4: 22-50714836-C-CG
• MyVariant Identifiers: chr22:g.51153264_51153265insG (hg19) ; chr22:g.50714836_50714837insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50714839dup , CM000684.2:g.50714839dup	GRCh38
NC_000022.10:g.51153267dup , CM000684.1:g.51153267dup	GRCh37
NC_000022.9:g.49500133dup	NCBI36
NG_008607.2:g.45485dup
NG_070230.1:g.50705dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.1736-78dup	ENSP00000489147.2:n.1736-78dup
ENST00000414786.7:n.2320-78dup
ENST00000445220.7:c.788-78dup	ENSP00000489407.2:n.788-78dup
ENST00000664402.2:c.278-78dup	ENSP00000499475.1:n.278-78dup
ENST00000673971.2:c.*734-78dup	ENSP00000501192.1:n.*734-78dup
ENST00000445220.6:c.788-78dup	ENSP00000489407.2:n.788-78dup
ENST00000262795.6:c.1736-78dup	ENSP00000489147.2:n.1736-78dup
ENST00000664402.1:c.278-78dup	ENSP00000499475.1:n.278-78dup
ENST00000673971.1:c.*734-78dup	ENSP00000501192.1:n.*734-78dup
ENST00000262795.5:c.2132-78dup	ENSP00000489147.1:n.2132-78dup
ENST00000414786.6:n.2320-78dup
ENST00000445220.5:c.2114-78dup	ENSP00000489407.1:n.2114-78dup