Canonical Allele Identifier: CA2411007620

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720446C= , CM000684.2:g.50720446C=	GRCh38
NC_000022.10:g.51158874C= , CM000684.1:g.51158874C=	GRCh37
NC_000022.9:g.49505740C=	NCBI36
NG_008607.2:g.51092C=
NG_070230.1:g.56230C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.2610C=	ENSP00000489147.1:p.Tyr870=
ENST00000262795.6:c.2214C=	ENSP00000489147.2:p.Tyr738=
ENST00000262795.7:c.2214C=	ENSP00000489147.2:p.Tyr738=
ENST00000414786.6:n.2798C=
ENST00000414786.7:n.2798C=
ENST00000445220.5:c.2592C=	ENSP00000489407.1:p.Tyr864=
ENST00000445220.6:c.1266C=	ENSP00000489407.2:p.Tyr422=
ENST00000445220.7:c.1266C=	ENSP00000489407.2:p.Tyr422=
ENST00000664402.1:c.756C=	ENSP00000499475.1:p.Tyr252=
ENST00000664402.2:c.756C=	ENSP00000499475.1:p.Tyr252=
ENST00000673971.1:c.*1212C=	ENSP00000501192.1:n.*1212C=
ENST00000673971.2:c.*1212C=	ENSP00000501192.1:n.*1212C=