Canonical Allele Identifier: CA2411008519

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721892C= , CM000684.2:g.50721892C=	GRCh38
NC_000022.10:g.51160320C= , CM000684.1:g.51160320C=	GRCh37
NC_000022.9:g.49507186C=	NCBI36
NG_008607.2:g.52538C=
NG_070230.1:g.57676C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3660C=	ENSP00000489147.2:p.Ala1220=
ENST00000414786.7:n.4244C=
ENST00000445220.7:c.2712C=	ENSP00000489407.2:p.Ala904=
ENST00000664402.2:c.2202C=	ENSP00000499475.1:p.Ala734=
ENST00000673971.2:c.*2658C=	ENSP00000501192.1:n.*2658C=
ENST00000445220.6:c.2712C=	ENSP00000489407.2:p.Ala904=
ENST00000262795.6:c.3660C=	ENSP00000489147.2:p.Ala1220=
ENST00000664402.1:c.2202C=	ENSP00000499475.1:p.Ala734=
ENST00000673971.1:c.*2658C=	ENSP00000501192.1:n.*2658C=
ENST00000262795.5:c.4056C=	ENSP00000489147.1:p.Ala1352=
ENST00000414786.6:n.4244C=
ENST00000445220.5:c.4038C=	ENSP00000489407.1:p.Ala1346=