Canonical Allele Identifier: CA2558162360

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697579_50697580insGGCAGGCGCGCGGCCCGG , CM000684.2:g.50697579_50697580insGGCAGGCGCGCGGCCCGG	GRCh38
NC_000022.10:g.51136007_51136008insGGCAGGCGCGCGGCCCGG , CM000684.1:g.51136007_51136008insGGCAGGCGCGCGGCCCGG	GRCh37
NC_000022.9:g.49482873_49482874insGGCAGGCGCGCGGCCCGG	NCBI36
NG_008607.2:g.28225_28226insGGCAGGCGCGCGGCCCGG
NG_070230.1:g.33444_33445insGGCAGGCGCGCGGCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.963_964insGGCAGGCGCGCGGCCCGG	ENSP00000489147.2:p.Ala321_Pro322insGlyArgArgAlaAlaArg
ENST00000414786.7:n.1547_1548insGGCAGGCGCGCGGCCCGG
ENST00000445220.7:c.15_16insGGCAGGCGCGCGGCCCGG	ENSP00000489407.2:p.Ala5_Pro6insGlyArgArgAlaAlaArg
ENST00000673971.2:c.1320_1321insGGCAGGCGCGCGGCCCGG	ENSP00000501192.1:p.Ala440_Pro441insGlyArgArgAlaAlaArg
ENST00000445220.6:c.15_16insGGCAGGCGCGCGGCCCGG	ENSP00000489407.2:p.Ala5_Pro6insGlyArgArgAlaAlaArg
ENST00000262795.6:c.963_964insGGCAGGCGCGCGGCCCGG	ENSP00000489147.2:p.Ala321_Pro322insGlyArgArgAlaAlaArg
ENST00000673971.1:c.1320_1321insGGCAGGCGCGCGGCCCGG	ENSP00000501192.1:p.Ala440_Pro441insGlyArgArgAlaAlaArg
ENST00000673995.1:c.16_17insGGCAGGCGCGCGGCCCGG
ENST00000262795.5:c.1359_1360insGGCAGGCGCGCGGCCCGG	ENSP00000489147.1:p.Ala453_Pro454insGlyArgArgAlaAlaArg
ENST00000414786.6:n.1547_1548insGGCAGGCGCGCGGCCCGG
ENST00000445220.5:c.1341_1342insGGCAGGCGCGCGGCCCGG	ENSP00000489407.1:p.Ala447_Pro448insGlyArgArgAlaAlaArg