Canonical Allele Identifier: CA2573158312

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1684578
• ClinVar RCV Id: RCV002246198
• dbSNP Id: rs2146830613

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720996del , CM000684.2:g.50720996del	GRCh38
NC_000022.10:g.51159424del , CM000684.1:g.51159424del	GRCh37
NC_000022.9:g.49506290del	NCBI36
NG_008607.2:g.51642del
NG_070230.1:g.56780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2764del	ENSP00000489147.2:p.Glu922SerfsTer23
ENST00000414786.7:n.3348del
ENST00000445220.7:c.1816del	ENSP00000489407.2:p.Glu606SerfsTer23
ENST00000664402.2:c.1306del	ENSP00000499475.1:p.Glu436SerfsTer23
ENST00000673971.2:c.*1762del	ENSP00000501192.1:n.*1762del
ENST00000445220.6:c.1816del	ENSP00000489407.2:p.Glu606SerfsTer23
ENST00000262795.6:c.2764del	ENSP00000489147.2:p.Glu922SerfsTer23
ENST00000664402.1:c.1306del	ENSP00000499475.1:p.Glu436SerfsTer23
ENST00000673971.1:c.*1762del	ENSP00000501192.1:n.*1762del
ENST00000262795.5:c.3160del	ENSP00000489147.1:p.Glu1054SerfsTer23
ENST00000414786.6:n.3348del
ENST00000445220.5:c.3142del	ENSP00000489407.1:p.Glu1048SerfsTer23