Canonical Allele Identifier: CA1026687680

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083090497
• gnomAD v3: 22-50697582-C-CGGG
• gnomAD v4: 22-50697582-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697582_50697583insGGG , CM000684.2:g.50697582_50697583insGGG	GRCh38
NC_000022.10:g.51136010_51136011insGGG , CM000684.1:g.51136010_51136011insGGG	GRCh37
NC_000022.9:g.49482876_49482877insGGG	NCBI36
NG_008607.2:g.28228_28229insGGG
NG_070230.1:g.33447_33448insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.966_967insGGG	ENSP00000489147.2:p.Pro322_Pro323insGly
ENST00000414786.7:n.1550_1551insGGG
ENST00000445220.7:c.18_19insGGG	ENSP00000489407.2:p.Pro6_Pro7insGly
ENST00000673971.2:c.1323_1324insGGG	ENSP00000501192.1:p.Pro441_Pro442insGly
ENST00000445220.6:c.18_19insGGG	ENSP00000489407.2:p.Pro6_Pro7insGly
ENST00000262795.6:c.966_967insGGG	ENSP00000489147.2:p.Pro322_Pro323insGly
ENST00000673971.1:c.1323_1324insGGG	ENSP00000501192.1:p.Pro441_Pro442insGly
ENST00000673995.1:c.19_20insGGG
ENST00000262795.5:c.1362_1363insGGG	ENSP00000489147.1:p.Pro454_Pro455insGly
ENST00000414786.6:n.1550_1551insGGG
ENST00000445220.5:c.1344_1345insGGG	ENSP00000489407.1:p.Pro448_Pro449insGly