Canonical Allele Identifier: CA2695200146

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2653422
• ClinVar RCV Id: RCV003427264

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720579_50720587dup , CM000684.2:g.50720579_50720587dup	GRCh38
NC_000022.10:g.51159007_51159015dup , CM000684.1:g.51159007_51159015dup	GRCh37
NC_000022.9:g.49505873_49505881dup	NCBI36
NG_008607.2:g.51225_51233dup
NG_070230.1:g.56363_56371dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2347_2355dup	ENSP00000489147.2:p.Pro785_Lys786insGluArgPro
ENST00000414786.7:n.2931_2939dup
ENST00000445220.7:c.1399_1407dup	ENSP00000489407.2:p.Pro469_Lys470insGluArgPro
ENST00000664402.2:c.889_897dup	ENSP00000499475.1:p.Pro299_Lys300insGluArgPro
ENST00000673971.2:c.*1345_*1353dup	ENSP00000501192.1:n.*1345_*1353dup
ENST00000445220.6:c.1399_1407dup	ENSP00000489407.2:p.Pro469_Lys470insGluArgPro
ENST00000262795.6:c.2347_2355dup	ENSP00000489147.2:p.Pro785_Lys786insGluArgPro
ENST00000664402.1:c.889_897dup	ENSP00000499475.1:p.Pro299_Lys300insGluArgPro
ENST00000673971.1:c.*1345_*1353dup	ENSP00000501192.1:n.*1345_*1353dup
ENST00000262795.5:c.2743_2751dup	ENSP00000489147.1:p.Pro917_Lys918insGluArgPro
ENST00000414786.6:n.2931_2939dup
ENST00000445220.5:c.2725_2733dup	ENSP00000489407.1:p.Pro911_Lys912insGluArgPro