Canonical Allele Identifier: CA2411008690

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722219C= , CM000684.2:g.50722219C=	GRCh38
NC_000022.10:g.51160647C= , CM000684.1:g.51160647C=	GRCh37
NC_000022.9:g.49507513C=	NCBI36
NG_008607.2:g.52865C=
NG_070230.1:g.58003C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3987C=	ENSP00000489147.2:p.Arg1329=
ENST00000414786.7:n.4571C=
ENST00000445220.7:c.3039C=	ENSP00000489407.2:p.Arg1013=
ENST00000664402.2:c.2529C=	ENSP00000499475.1:p.Arg843=
ENST00000673971.2:c.*2985C=	ENSP00000501192.1:n.*2985C=
ENST00000445220.6:c.3039C=	ENSP00000489407.2:p.Arg1013=
ENST00000262795.6:c.3987C=	ENSP00000489147.2:p.Arg1329=
ENST00000664402.1:c.2529C=	ENSP00000499475.1:p.Arg843=
ENST00000673971.1:c.*2985C=	ENSP00000501192.1:n.*2985C=
ENST00000262795.5:c.4383C=	ENSP00000489147.1:p.Arg1461=
ENST00000414786.6:n.4571C=
ENST00000445220.5:c.4365C=	ENSP00000489407.1:p.Arg1455=