Canonical Allele Identifier: CA754138605

Gene: SHANK3

Linked Data

• dbSNP Id: rs1479602665
• gnomAD v3: 22-50697583-C-CGGGCGCGG
• gnomAD v4: 22-50697583-C-CGGGCGCGG
• MyVariant Identifiers: chr22:g.51136011_51136012insGGGCGCGG (hg19) ; chr22:g.50697583_50697584insGGGCGCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697583_50697584insGGGCGCGG , CM000684.2:g.50697583_50697584insGGGCGCGG	GRCh38
NC_000022.10:g.51136011_51136012insGGGCGCGG , CM000684.1:g.51136011_51136012insGGGCGCGG	GRCh37
NC_000022.9:g.49482877_49482878insGGGCGCGG	NCBI36
NG_008607.2:g.28229_28230insGGGCGCGG
NG_070230.1:g.33448_33449insGGGCGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.967_968insGGGCGCGG	ENSP00000489147.2:p.Pro323ArgfsTer27
ENST00000414786.7:n.1551_1552insGGGCGCGG
ENST00000445220.7:c.19_20insGGGCGCGG	ENSP00000489407.2:p.Pro7ArgfsTer27
ENST00000673971.2:c.1324_1325insGGGCGCGG	ENSP00000501192.1:p.Pro442ArgfsTer27
ENST00000445220.6:c.19_20insGGGCGCGG	ENSP00000489407.2:p.Pro7ArgfsTer27
ENST00000262795.6:c.967_968insGGGCGCGG	ENSP00000489147.2:p.Pro323ArgfsTer27
ENST00000673971.1:c.1324_1325insGGGCGCGG	ENSP00000501192.1:p.Pro442ArgfsTer27
ENST00000673995.1:c.20_21insGGGCGCGG
ENST00000262795.5:c.1363_1364insGGGCGCGG	ENSP00000489147.1:p.Pro455ArgfsTer27
ENST00000414786.6:n.1551_1552insGGGCGCGG
ENST00000445220.5:c.1345_1346insGGGCGCGG	ENSP00000489407.1:p.Pro449ArgfsTer27