Canonical Allele Identifier: CA640359014

Gene: SHANK3

Linked Data

• gnomAD v2: 22-51136010-C-CGGGCGCGG
• gnomAD v3: 22-50697582-C-CGGGCGCGG
• gnomAD v4: 22-50697582-C-CGGGCGCGG
• MyVariant Identifiers: chr22:g.51136010_51136011insGGGCGCGG (hg19) ; chr22:g.50697582_50697583insGGGCGCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697582_50697583insGGGCGCGG , CM000684.2:g.50697582_50697583insGGGCGCGG	GRCh38
NC_000022.10:g.51136010_51136011insGGGCGCGG , CM000684.1:g.51136010_51136011insGGGCGCGG	GRCh37
NC_000022.9:g.49482876_49482877insGGGCGCGG	NCBI36
NG_008607.2:g.28228_28229insGGGCGCGG
NG_070230.1:g.33447_33448insGGGCGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.966_967insGGGCGCGG	ENSP00000489147.2:p.Pro323GlyfsTer27
ENST00000414786.7:n.1550_1551insGGGCGCGG
ENST00000445220.7:c.18_19insGGGCGCGG	ENSP00000489407.2:p.Pro7GlyfsTer27
ENST00000673971.2:c.1323_1324insGGGCGCGG	ENSP00000501192.1:p.Pro442GlyfsTer27
ENST00000445220.6:c.18_19insGGGCGCGG	ENSP00000489407.2:p.Pro7GlyfsTer27
ENST00000262795.6:c.966_967insGGGCGCGG	ENSP00000489147.2:p.Pro323GlyfsTer27
ENST00000673971.1:c.1323_1324insGGGCGCGG	ENSP00000501192.1:p.Pro442GlyfsTer27
ENST00000673995.1:c.19_20insGGGCGCGG
ENST00000262795.5:c.1362_1363insGGGCGCGG	ENSP00000489147.1:p.Pro455GlyfsTer27
ENST00000414786.6:n.1550_1551insGGGCGCGG
ENST00000445220.5:c.1344_1345insGGGCGCGG	ENSP00000489407.1:p.Pro449GlyfsTer27