Canonical Allele Identifier: CA2657598589

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697582-C-CTGAGCGGGCGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697582_50697583insTGAGCGGGCGCGG , CM000684.2:g.50697582_50697583insTGAGCGGGCGCGG	GRCh38
NC_000022.10:g.51136010_51136011insTGAGCGGGCGCGG , CM000684.1:g.51136010_51136011insTGAGCGGGCGCGG	GRCh37
NC_000022.9:g.49482876_49482877insTGAGCGGGCGCGG	NCBI36
NG_008607.2:g.28228_28229insTGAGCGGGCGCGG
NG_070230.1:g.33447_33448insTGAGCGGGCGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.966_967insTGAGCGGGCGCGG	ENSP00000489147.2:p.Pro323Ter
ENST00000414786.7:n.1550_1551insTGAGCGGGCGCGG
ENST00000445220.7:c.18_19insTGAGCGGGCGCGG	ENSP00000489407.2:p.Pro7Ter
ENST00000673971.2:c.1323_1324insTGAGCGGGCGCGG	ENSP00000501192.1:p.Pro442Ter
ENST00000445220.6:c.18_19insTGAGCGGGCGCGG	ENSP00000489407.2:p.Pro7Ter
ENST00000262795.6:c.966_967insTGAGCGGGCGCGG	ENSP00000489147.2:p.Pro323Ter
ENST00000673971.1:c.1323_1324insTGAGCGGGCGCGG	ENSP00000501192.1:p.Pro442Ter
ENST00000673995.1:c.19_20insTGAGCGGGCGCGG
ENST00000262795.5:c.1362_1363insTGAGCGGGCGCGG	ENSP00000489147.1:p.Pro455Ter
ENST00000414786.6:n.1550_1551insTGAGCGGGCGCGG
ENST00000445220.5:c.1344_1345insTGAGCGGGCGCGG	ENSP00000489407.1:p.Pro449Ter