Canonical Allele Identifier: CA2411008473

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721809C= , CM000684.2:g.50721809C=	GRCh38
NC_000022.10:g.51160237C= , CM000684.1:g.51160237C=	GRCh37
NC_000022.9:g.49507103C=	NCBI36
NG_008607.2:g.52455C=
NG_070230.1:g.57593C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3577C=	ENSP00000489147.2:p.Pro1193=
ENST00000414786.7:n.4161C=
ENST00000445220.7:c.2629C=	ENSP00000489407.2:p.Pro877=
ENST00000664402.2:c.2119C=	ENSP00000499475.1:p.Pro707=
ENST00000673971.2:c.*2575C=	ENSP00000501192.1:n.*2575C=
ENST00000445220.6:c.2629C=	ENSP00000489407.2:p.Pro877=
ENST00000262795.6:c.3577C=	ENSP00000489147.2:p.Pro1193=
ENST00000664402.1:c.2119C=	ENSP00000499475.1:p.Pro707=
ENST00000673971.1:c.*2575C=	ENSP00000501192.1:n.*2575C=
ENST00000262795.5:c.3973C=	ENSP00000489147.1:p.Pro1325=
ENST00000414786.6:n.4161C=
ENST00000445220.5:c.3955C=	ENSP00000489407.1:p.Pro1319=