Canonical Allele Identifier: CA2411008620

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722100G= , CM000684.2:g.50722100G=	GRCh38
NC_000022.10:g.51160528G= , CM000684.1:g.51160528G=	GRCh37
NC_000022.9:g.49507394G=	NCBI36
NG_008607.2:g.52746G=
NG_070230.1:g.57884G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3868G=	ENSP00000489147.2:p.Gly1290=
ENST00000414786.7:n.4452G=
ENST00000445220.7:c.2920G=	ENSP00000489407.2:p.Gly974=
ENST00000664402.2:c.2410G=	ENSP00000499475.1:p.Gly804=
ENST00000673971.2:c.*2866G=	ENSP00000501192.1:n.*2866G=
ENST00000445220.6:c.2920G=	ENSP00000489407.2:p.Gly974=
ENST00000262795.6:c.3868G=	ENSP00000489147.2:p.Gly1290=
ENST00000664402.1:c.2410G=	ENSP00000499475.1:p.Gly804=
ENST00000673971.1:c.*2866G=	ENSP00000501192.1:n.*2866G=
ENST00000262795.5:c.4264G=	ENSP00000489147.1:p.Gly1422=
ENST00000414786.6:n.4452G=
ENST00000445220.5:c.4246G=	ENSP00000489407.1:p.Gly1416=