Canonical Allele Identifier: CA2411007703

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720590G= , CM000684.2:g.50720590G=	GRCh38
NC_000022.10:g.51159018G= , CM000684.1:g.51159018G=	GRCh37
NC_000022.9:g.49505884G=	NCBI36
NG_008607.2:g.51236G=
NG_070230.1:g.56374G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2358G=	ENSP00000489147.2:p.Lys786=
ENST00000414786.7:n.2942G=
ENST00000445220.7:c.1410G=	ENSP00000489407.2:p.Lys470=
ENST00000664402.2:c.900G=	ENSP00000499475.1:p.Lys300=
ENST00000673971.2:c.*1356G=	ENSP00000501192.1:n.*1356G=
ENST00000445220.6:c.1410G=	ENSP00000489407.2:p.Lys470=
ENST00000262795.6:c.2358G=	ENSP00000489147.2:p.Lys786=
ENST00000664402.1:c.900G=	ENSP00000499475.1:p.Lys300=
ENST00000673971.1:c.*1356G=	ENSP00000501192.1:n.*1356G=
ENST00000262795.5:c.2754G=	ENSP00000489147.1:p.Lys918=
ENST00000414786.6:n.2942G=
ENST00000445220.5:c.2736G=	ENSP00000489407.1:p.Lys912=