Canonical Allele Identifier: CA2411008534

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721920C= , CM000684.2:g.50721920C=	GRCh38
NC_000022.10:g.51160348C= , CM000684.1:g.51160348C=	GRCh37
NC_000022.9:g.49507214C=	NCBI36
NG_008607.2:g.52566C=
NG_070230.1:g.57704C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3688C=	ENSP00000489147.2:p.Arg1230=
ENST00000414786.7:n.4272C=
ENST00000445220.7:c.2740C=	ENSP00000489407.2:p.Arg914=
ENST00000664402.2:c.2230C=	ENSP00000499475.1:p.Arg744=
ENST00000673971.2:c.*2686C=	ENSP00000501192.1:n.*2686C=
ENST00000445220.6:c.2740C=	ENSP00000489407.2:p.Arg914=
ENST00000262795.6:c.3688C=	ENSP00000489147.2:p.Arg1230=
ENST00000664402.1:c.2230C=	ENSP00000499475.1:p.Arg744=
ENST00000673971.1:c.*2686C=	ENSP00000501192.1:n.*2686C=
ENST00000262795.5:c.4084C=	ENSP00000489147.1:p.Arg1362=
ENST00000414786.6:n.4272C=
ENST00000445220.5:c.4066C=	ENSP00000489407.1:p.Arg1356=