Canonical Allele Identifier: CA2411008210

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721393C= , CM000684.2:g.50721393C=	GRCh38
NC_000022.10:g.51159821C= , CM000684.1:g.51159821C=	GRCh37
NC_000022.9:g.49506687C=	NCBI36
NG_008607.2:g.52039C=
NG_070230.1:g.57177C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3161C=	ENSP00000489147.2:p.Ser1054=
ENST00000414786.7:n.3745C=
ENST00000445220.7:c.2213C=	ENSP00000489407.2:p.Ser738=
ENST00000664402.2:c.1703C=	ENSP00000499475.1:p.Ser568=
ENST00000673971.2:c.*2159C=	ENSP00000501192.1:n.*2159C=
ENST00000445220.6:c.2213C=	ENSP00000489407.2:p.Ser738=
ENST00000262795.6:c.3161C=	ENSP00000489147.2:p.Ser1054=
ENST00000664402.1:c.1703C=	ENSP00000499475.1:p.Ser568=
ENST00000673971.1:c.*2159C=	ENSP00000501192.1:n.*2159C=
ENST00000262795.5:c.3557C=	ENSP00000489147.1:p.Ser1186=
ENST00000414786.6:n.3745C=
ENST00000445220.5:c.3539C=	ENSP00000489407.1:p.Ser1180=