Canonical Allele Identifier: CA2411008660

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722177C= , CM000684.2:g.50722177C=	GRCh38
NC_000022.10:g.51160605C= , CM000684.1:g.51160605C=	GRCh37
NC_000022.9:g.49507471C=	NCBI36
NG_008607.2:g.52823C=
NG_070230.1:g.57961C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3945C=	ENSP00000489147.2:p.His1315=
ENST00000414786.7:n.4529C=
ENST00000445220.7:c.2997C=	ENSP00000489407.2:p.His999=
ENST00000664402.2:c.2487C=	ENSP00000499475.1:p.His829=
ENST00000673971.2:c.*2943C=	ENSP00000501192.1:n.*2943C=
ENST00000445220.6:c.2997C=	ENSP00000489407.2:p.His999=
ENST00000262795.6:c.3945C=	ENSP00000489147.2:p.His1315=
ENST00000664402.1:c.2487C=	ENSP00000499475.1:p.His829=
ENST00000673971.1:c.*2943C=	ENSP00000501192.1:n.*2943C=
ENST00000262795.5:c.4341C=	ENSP00000489147.1:p.His1447=
ENST00000414786.6:n.4529C=
ENST00000445220.5:c.4323C=	ENSP00000489407.1:p.His1441=