Canonical Allele Identifier: CA2411008452

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721784C= , CM000684.2:g.50721784C=	GRCh38
NC_000022.10:g.51160212C= , CM000684.1:g.51160212C=	GRCh37
NC_000022.9:g.49507078C=	NCBI36
NG_008607.2:g.52430C=
NG_070230.1:g.57568C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3552C=	ENSP00000489147.2:p.Val1184=
ENST00000414786.7:n.4136C=
ENST00000445220.7:c.2604C=	ENSP00000489407.2:p.Val868=
ENST00000664402.2:c.2094C=	ENSP00000499475.1:p.Val698=
ENST00000673971.2:c.*2550C=	ENSP00000501192.1:n.*2550C=
ENST00000445220.6:c.2604C=	ENSP00000489407.2:p.Val868=
ENST00000262795.6:c.3552C=	ENSP00000489147.2:p.Val1184=
ENST00000664402.1:c.2094C=	ENSP00000499475.1:p.Val698=
ENST00000673971.1:c.*2550C=	ENSP00000501192.1:n.*2550C=
ENST00000262795.5:c.3948C=	ENSP00000489147.1:p.Val1316=
ENST00000414786.6:n.4136C=
ENST00000445220.5:c.3930C=	ENSP00000489407.1:p.Val1310=