Canonical Allele Identifier: CA2411008691

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722220C= , CM000684.2:g.50722220C=	GRCh38
NC_000022.10:g.51160648C= , CM000684.1:g.51160648C=	GRCh37
NC_000022.9:g.49507514C=	NCBI36
NG_008607.2:g.52866C=
NG_070230.1:g.58004C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3988C=	ENSP00000489147.2:p.Pro1330=
ENST00000414786.7:n.4572C=
ENST00000445220.7:c.3040C=	ENSP00000489407.2:p.Pro1014=
ENST00000664402.2:c.2530C=	ENSP00000499475.1:p.Pro844=
ENST00000673971.2:c.*2986C=	ENSP00000501192.1:n.*2986C=
ENST00000445220.6:c.3040C=	ENSP00000489407.2:p.Pro1014=
ENST00000262795.6:c.3988C=	ENSP00000489147.2:p.Pro1330=
ENST00000664402.1:c.2530C=	ENSP00000499475.1:p.Pro844=
ENST00000673971.1:c.*2986C=	ENSP00000501192.1:n.*2986C=
ENST00000262795.5:c.4384C=	ENSP00000489147.1:p.Pro1462=
ENST00000414786.6:n.4572C=
ENST00000445220.5:c.4366C=	ENSP00000489407.1:p.Pro1456=