Canonical Allele Identifier: CA2411008631

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722120C= , CM000684.2:g.50722120C=	GRCh38
NC_000022.10:g.51160548C= , CM000684.1:g.51160548C=	GRCh37
NC_000022.9:g.49507414C=	NCBI36
NG_008607.2:g.52766C=
NG_070230.1:g.57904C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3888C=	ENSP00000489147.2:p.Phe1296=
ENST00000414786.7:n.4472C=
ENST00000445220.7:c.2940C=	ENSP00000489407.2:p.Phe980=
ENST00000664402.2:c.2430C=	ENSP00000499475.1:p.Phe810=
ENST00000673971.2:c.*2886C=	ENSP00000501192.1:n.*2886C=
ENST00000445220.6:c.2940C=	ENSP00000489407.2:p.Phe980=
ENST00000262795.6:c.3888C=	ENSP00000489147.2:p.Phe1296=
ENST00000664402.1:c.2430C=	ENSP00000499475.1:p.Phe810=
ENST00000673971.1:c.*2886C=	ENSP00000501192.1:n.*2886C=
ENST00000262795.5:c.4284C=	ENSP00000489147.1:p.Phe1428=
ENST00000414786.6:n.4472C=
ENST00000445220.5:c.4266C=	ENSP00000489407.1:p.Phe1422=