Canonical Allele Identifier: CA2410999954

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50706117G= , CM000684.2:g.50706117G=	GRCh38
NC_000022.10:g.51144545G= , CM000684.1:g.51144545G=	GRCh37
NC_000022.9:g.49491411G=	NCBI36
NG_008607.2:g.36763G=
NG_070230.1:g.41983G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.2072G=	ENSP00000489147.1:p.Arg691=
ENST00000262795.6:c.1676G=	ENSP00000489147.2:p.Arg559=
ENST00000262795.7:c.1676G=	ENSP00000489147.2:p.Arg559=
ENST00000414786.6:n.2260G=
ENST00000414786.7:n.2260G=
ENST00000445220.5:c.2054G=	ENSP00000489407.1:p.Arg685=
ENST00000445220.6:c.728G=	ENSP00000489407.2:p.Arg243=
ENST00000445220.7:c.728G=	ENSP00000489407.2:p.Arg243=
ENST00000664402.1:c.218G=	ENSP00000499475.1:p.Arg73=
ENST00000664402.2:c.218G=	ENSP00000499475.1:p.Arg73=
ENST00000673971.1:c.*674G=	ENSP00000501192.1:n.*674G=
ENST00000673971.2:c.*674G=	ENSP00000501192.1:n.*674G=