Canonical Allele Identifier: CA2411008711

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722270G= , CM000684.2:g.50722270G=	GRCh38
NC_000022.10:g.51160698G= , CM000684.1:g.51160698G=	GRCh37
NC_000022.9:g.49507564G=	NCBI36
NG_008607.2:g.52916G=
NG_070230.1:g.58054G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4038G=	ENSP00000489147.2:p.Glu1346=
ENST00000414786.7:n.4622G=
ENST00000445220.7:c.3090G=	ENSP00000489407.2:p.Glu1030=
ENST00000664402.2:c.2580G=	ENSP00000499475.1:p.Glu860=
ENST00000673971.2:c.*3036G=	ENSP00000501192.1:n.*3036G=
ENST00000445220.6:c.3090G=	ENSP00000489407.2:p.Glu1030=
ENST00000262795.6:c.4038G=	ENSP00000489147.2:p.Glu1346=
ENST00000664402.1:c.2580G=	ENSP00000499475.1:p.Glu860=
ENST00000673971.1:c.*3036G=	ENSP00000501192.1:n.*3036G=
ENST00000262795.5:c.4434G=	ENSP00000489147.1:p.Glu1478=
ENST00000414786.6:n.4622G=
ENST00000445220.5:c.4416G=	ENSP00000489407.1:p.Glu1472=