Canonical Allele Identifier: CA2411008540

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721928C= , CM000684.2:g.50721928C=	GRCh38
NC_000022.10:g.51160356C= , CM000684.1:g.51160356C=	GRCh37
NC_000022.9:g.49507222C=	NCBI36
NG_008607.2:g.52574C=
NG_070230.1:g.57712C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3696C=	ENSP00000489147.2:p.Ser1232=
ENST00000414786.7:n.4280C=
ENST00000445220.7:c.2748C=	ENSP00000489407.2:p.Ser916=
ENST00000664402.2:c.2238C=	ENSP00000499475.1:p.Ser746=
ENST00000673971.2:c.*2694C=	ENSP00000501192.1:n.*2694C=
ENST00000445220.6:c.2748C=	ENSP00000489407.2:p.Ser916=
ENST00000262795.6:c.3696C=	ENSP00000489147.2:p.Ser1232=
ENST00000664402.1:c.2238C=	ENSP00000499475.1:p.Ser746=
ENST00000673971.1:c.*2694C=	ENSP00000501192.1:n.*2694C=
ENST00000262795.5:c.4092C=	ENSP00000489147.1:p.Ser1364=
ENST00000414786.6:n.4280C=
ENST00000445220.5:c.4074C=	ENSP00000489407.1:p.Ser1358=