Canonical Allele Identifier: CA2411007593

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720389C= , CM000684.2:g.50720389C=	GRCh38
NC_000022.10:g.51158817C= , CM000684.1:g.51158817C=	GRCh37
NC_000022.9:g.49505683C=	NCBI36
NG_008607.2:g.51035C=
NG_070230.1:g.56173C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2157C=	ENSP00000489147.2:p.Arg719=
ENST00000414786.7:n.2741C=
ENST00000445220.7:c.1209C=	ENSP00000489407.2:p.Arg403=
ENST00000664402.2:c.699C=	ENSP00000499475.1:p.Arg233=
ENST00000673971.2:c.*1155C=	ENSP00000501192.1:n.*1155C=
ENST00000445220.6:c.1209C=	ENSP00000489407.2:p.Arg403=
ENST00000262795.6:c.2157C=	ENSP00000489147.2:p.Arg719=
ENST00000664402.1:c.699C=	ENSP00000499475.1:p.Arg233=
ENST00000673971.1:c.*1155C=	ENSP00000501192.1:n.*1155C=
ENST00000262795.5:c.2553C=	ENSP00000489147.1:p.Arg851=
ENST00000414786.6:n.2741C=
ENST00000445220.5:c.2535C=	ENSP00000489407.1:p.Arg845=