Canonical Allele Identifier: CA2580615344

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2570692
• ClinVar RCV Id: RCV003311620

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720997del , CM000684.2:g.50720997del	GRCh38
NC_000022.10:g.51159425del , CM000684.1:g.51159425del	GRCh37
NC_000022.9:g.49506291del	NCBI36
NG_008607.2:g.51643del
NG_070230.1:g.56781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2765del	ENSP00000489147.2:p.Glu922GlyfsTer23
ENST00000414786.7:n.3349del
ENST00000445220.7:c.1817del	ENSP00000489407.2:p.Glu606GlyfsTer23
ENST00000664402.2:c.1307del	ENSP00000499475.1:p.Glu436GlyfsTer23
ENST00000673971.2:c.*1763del	ENSP00000501192.1:n.*1763del
ENST00000445220.6:c.1817del	ENSP00000489407.2:p.Glu606GlyfsTer23
ENST00000262795.6:c.2765del	ENSP00000489147.2:p.Glu922GlyfsTer23
ENST00000664402.1:c.1307del	ENSP00000499475.1:p.Glu436GlyfsTer23
ENST00000673971.1:c.*1763del	ENSP00000501192.1:n.*1763del
ENST00000262795.5:c.3161del	ENSP00000489147.1:p.Glu1054GlyfsTer23
ENST00000414786.6:n.3349del
ENST00000445220.5:c.3143del	ENSP00000489407.1:p.Glu1048GlyfsTer23