Canonical Allele Identifier: CA2411008646

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722153C= , CM000684.2:g.50722153C=	GRCh38
NC_000022.10:g.51160581C= , CM000684.1:g.51160581C=	GRCh37
NC_000022.9:g.49507447C=	NCBI36
NG_008607.2:g.52799C=
NG_070230.1:g.57937C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3921C=	ENSP00000489147.2:p.Ser1307=
ENST00000414786.7:n.4505C=
ENST00000445220.7:c.2973C=	ENSP00000489407.2:p.Ser991=
ENST00000664402.2:c.2463C=	ENSP00000499475.1:p.Ser821=
ENST00000673971.2:c.*2919C=	ENSP00000501192.1:n.*2919C=
ENST00000445220.6:c.2973C=	ENSP00000489407.2:p.Ser991=
ENST00000262795.6:c.3921C=	ENSP00000489147.2:p.Ser1307=
ENST00000664402.1:c.2463C=	ENSP00000499475.1:p.Ser821=
ENST00000673971.1:c.*2919C=	ENSP00000501192.1:n.*2919C=
ENST00000262795.5:c.4317C=	ENSP00000489147.1:p.Ser1439=
ENST00000414786.6:n.4505C=
ENST00000445220.5:c.4299C=	ENSP00000489407.1:p.Ser1433=