Canonical Allele Identifier: CA2411008192

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721361G= , CM000684.2:g.50721361G=	GRCh38
NC_000022.10:g.51159789G= , CM000684.1:g.51159789G=	GRCh37
NC_000022.9:g.49506655G=	NCBI36
NG_008607.2:g.52007G=
NG_070230.1:g.57145G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3129G=	ENSP00000489147.2:p.Glu1043=
ENST00000414786.7:n.3713G=
ENST00000445220.7:c.2181G=	ENSP00000489407.2:p.Glu727=
ENST00000664402.2:c.1671G=	ENSP00000499475.1:p.Glu557=
ENST00000673971.2:c.*2127G=	ENSP00000501192.1:n.*2127G=
ENST00000445220.6:c.2181G=	ENSP00000489407.2:p.Glu727=
ENST00000262795.6:c.3129G=	ENSP00000489147.2:p.Glu1043=
ENST00000664402.1:c.1671G=	ENSP00000499475.1:p.Glu557=
ENST00000673971.1:c.*2127G=	ENSP00000501192.1:n.*2127G=
ENST00000262795.5:c.3525G=	ENSP00000489147.1:p.Glu1175=
ENST00000414786.6:n.3713G=
ENST00000445220.5:c.3507G=	ENSP00000489407.1:p.Glu1169=