Canonical Allele Identifier: CA2411007897

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720900C= , CM000684.2:g.50720900C=	GRCh38
NC_000022.10:g.51159328C= , CM000684.1:g.51159328C=	GRCh37
NC_000022.9:g.49506194C=	NCBI36
NG_008607.2:g.51546C=
NG_070230.1:g.56684C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2668C=	ENSP00000489147.2:p.Arg890=
ENST00000414786.7:n.3252C=
ENST00000445220.7:c.1720C=	ENSP00000489407.2:p.Arg574=
ENST00000664402.2:c.1210C=	ENSP00000499475.1:p.Arg404=
ENST00000673971.2:c.*1666C=	ENSP00000501192.1:n.*1666C=
ENST00000445220.6:c.1720C=	ENSP00000489407.2:p.Arg574=
ENST00000262795.6:c.2668C=	ENSP00000489147.2:p.Arg890=
ENST00000664402.1:c.1210C=	ENSP00000499475.1:p.Arg404=
ENST00000673971.1:c.*1666C=	ENSP00000501192.1:n.*1666C=
ENST00000262795.5:c.3064C=	ENSP00000489147.1:p.Arg1022=
ENST00000414786.6:n.3252C=
ENST00000445220.5:c.3046C=	ENSP00000489407.1:p.Arg1016=