Canonical Allele Identifier: CA2411008524

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721902G= , CM000684.2:g.50721902G=	GRCh38
NC_000022.10:g.51160330G= , CM000684.1:g.51160330G=	GRCh37
NC_000022.9:g.49507196G=	NCBI36
NG_008607.2:g.52548G=
NG_070230.1:g.57686G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3670G=	ENSP00000489147.2:p.Val1224=
ENST00000414786.7:n.4254G=
ENST00000445220.7:c.2722G=	ENSP00000489407.2:p.Val908=
ENST00000664402.2:c.2212G=	ENSP00000499475.1:p.Val738=
ENST00000673971.2:c.*2668G=	ENSP00000501192.1:n.*2668G=
ENST00000445220.6:c.2722G=	ENSP00000489407.2:p.Val908=
ENST00000262795.6:c.3670G=	ENSP00000489147.2:p.Val1224=
ENST00000664402.1:c.2212G=	ENSP00000499475.1:p.Val738=
ENST00000673971.1:c.*2668G=	ENSP00000501192.1:n.*2668G=
ENST00000262795.5:c.4066G=	ENSP00000489147.1:p.Val1356=
ENST00000414786.6:n.4254G=
ENST00000445220.5:c.4048G=	ENSP00000489407.1:p.Val1350=