Canonical Allele Identifier: CA2411008215

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721398G= , CM000684.2:g.50721398G=	GRCh38
NC_000022.10:g.51159826G= , CM000684.1:g.51159826G=	GRCh37
NC_000022.9:g.49506692G=	NCBI36
NG_008607.2:g.52044G=
NG_070230.1:g.57182G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3166G=	ENSP00000489147.2:p.Glu1056=
ENST00000414786.7:n.3750G=
ENST00000445220.7:c.2218G=	ENSP00000489407.2:p.Glu740=
ENST00000664402.2:c.1708G=	ENSP00000499475.1:p.Glu570=
ENST00000673971.2:c.*2164G=	ENSP00000501192.1:n.*2164G=
ENST00000445220.6:c.2218G=	ENSP00000489407.2:p.Glu740=
ENST00000262795.6:c.3166G=	ENSP00000489147.2:p.Glu1056=
ENST00000664402.1:c.1708G=	ENSP00000499475.1:p.Glu570=
ENST00000673971.1:c.*2164G=	ENSP00000501192.1:n.*2164G=
ENST00000262795.5:c.3562G=	ENSP00000489147.1:p.Glu1188=
ENST00000414786.6:n.3750G=
ENST00000445220.5:c.3544G=	ENSP00000489407.1:p.Glu1182=