Canonical Allele Identifier: CA2411007618

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720439G= , CM000684.2:g.50720439G=	GRCh38
NC_000022.10:g.51158867G= , CM000684.1:g.51158867G=	GRCh37
NC_000022.9:g.49505733G=	NCBI36
NG_008607.2:g.51085G=
NG_070230.1:g.56223G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2207G=	ENSP00000489147.2:p.Gly736=
ENST00000414786.7:n.2791G=
ENST00000445220.7:c.1259G=	ENSP00000489407.2:p.Gly420=
ENST00000664402.2:c.749G=	ENSP00000499475.1:p.Gly250=
ENST00000673971.2:c.*1205G=	ENSP00000501192.1:n.*1205G=
ENST00000445220.6:c.1259G=	ENSP00000489407.2:p.Gly420=
ENST00000262795.6:c.2207G=	ENSP00000489147.2:p.Gly736=
ENST00000664402.1:c.749G=	ENSP00000499475.1:p.Gly250=
ENST00000673971.1:c.*1205G=	ENSP00000501192.1:n.*1205G=
ENST00000262795.5:c.2603G=	ENSP00000489147.1:p.Gly868=
ENST00000414786.6:n.2791G=
ENST00000445220.5:c.2585G=	ENSP00000489407.1:p.Gly862=