Canonical Allele Identifier: CA2411007741

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720656C= , CM000684.2:g.50720656C=	GRCh38
NC_000022.10:g.51159084C= , CM000684.1:g.51159084C=	GRCh37
NC_000022.9:g.49505950C=	NCBI36
NG_008607.2:g.51302C=
NG_070230.1:g.56440C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2424C=	ENSP00000489147.2:p.Leu808=
ENST00000414786.7:n.3008C=
ENST00000445220.7:c.1476C=	ENSP00000489407.2:p.Leu492=
ENST00000664402.2:c.966C=	ENSP00000499475.1:p.Leu322=
ENST00000673971.2:c.*1422C=	ENSP00000501192.1:n.*1422C=
ENST00000445220.6:c.1476C=	ENSP00000489407.2:p.Leu492=
ENST00000262795.6:c.2424C=	ENSP00000489147.2:p.Leu808=
ENST00000664402.1:c.966C=	ENSP00000499475.1:p.Leu322=
ENST00000673971.1:c.*1422C=	ENSP00000501192.1:n.*1422C=
ENST00000262795.5:c.2820C=	ENSP00000489147.1:p.Leu940=
ENST00000414786.6:n.3008C=
ENST00000445220.5:c.2802C=	ENSP00000489407.1:p.Leu934=