Canonical Allele Identifier: CA2411008421

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721726G= , CM000684.2:g.50721726G=	GRCh38
NC_000022.10:g.51160154G= , CM000684.1:g.51160154G=	GRCh37
NC_000022.9:g.49507020G=	NCBI36
NG_008607.2:g.52372G=
NG_070230.1:g.57510G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3494G=	ENSP00000489147.2:p.Arg1165=
ENST00000414786.7:n.4078G=
ENST00000445220.7:c.2546G=	ENSP00000489407.2:p.Arg849=
ENST00000664402.2:c.2036G=	ENSP00000499475.1:p.Arg679=
ENST00000673971.2:c.*2492G=	ENSP00000501192.1:n.*2492G=
ENST00000445220.6:c.2546G=	ENSP00000489407.2:p.Arg849=
ENST00000262795.6:c.3494G=	ENSP00000489147.2:p.Arg1165=
ENST00000664402.1:c.2036G=	ENSP00000499475.1:p.Arg679=
ENST00000673971.1:c.*2492G=	ENSP00000501192.1:n.*2492G=
ENST00000262795.5:c.3890G=	ENSP00000489147.1:p.Arg1297=
ENST00000414786.6:n.4078G=
ENST00000445220.5:c.3872G=	ENSP00000489407.1:p.Arg1291=