Canonical Allele Identifier: CA2411008692

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722223C= , CM000684.2:g.50722223C=	GRCh38
NC_000022.10:g.51160651C= , CM000684.1:g.51160651C=	GRCh37
NC_000022.9:g.49507517C=	NCBI36
NG_008607.2:g.52869C=
NG_070230.1:g.58007C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3991C=	ENSP00000489147.2:p.Arg1331=
ENST00000414786.7:n.4575C=
ENST00000445220.7:c.3043C=	ENSP00000489407.2:p.Arg1015=
ENST00000664402.2:c.2533C=	ENSP00000499475.1:p.Arg845=
ENST00000673971.2:c.*2989C=	ENSP00000501192.1:n.*2989C=
ENST00000445220.6:c.3043C=	ENSP00000489407.2:p.Arg1015=
ENST00000262795.6:c.3991C=	ENSP00000489147.2:p.Arg1331=
ENST00000664402.1:c.2533C=	ENSP00000499475.1:p.Arg845=
ENST00000673971.1:c.*2989C=	ENSP00000501192.1:n.*2989C=
ENST00000262795.5:c.4387C=	ENSP00000489147.1:p.Arg1463=
ENST00000414786.6:n.4575C=
ENST00000445220.5:c.4369C=	ENSP00000489407.1:p.Arg1457=