Canonical Allele Identifier: CA2411008191

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721358G= , CM000684.2:g.50721358G=	GRCh38
NC_000022.10:g.51159786G= , CM000684.1:g.51159786G=	GRCh37
NC_000022.9:g.49506652G=	NCBI36
NG_008607.2:g.52004G=
NG_070230.1:g.57142G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3126G=	ENSP00000489147.2:p.Arg1042=
ENST00000414786.7:n.3710G=
ENST00000445220.7:c.2178G=	ENSP00000489407.2:p.Arg726=
ENST00000664402.2:c.1668G=	ENSP00000499475.1:p.Arg556=
ENST00000673971.2:c.*2124G=	ENSP00000501192.1:n.*2124G=
ENST00000445220.6:c.2178G=	ENSP00000489407.2:p.Arg726=
ENST00000262795.6:c.3126G=	ENSP00000489147.2:p.Arg1042=
ENST00000664402.1:c.1668G=	ENSP00000499475.1:p.Arg556=
ENST00000673971.1:c.*2124G=	ENSP00000501192.1:n.*2124G=
ENST00000262795.5:c.3522G=	ENSP00000489147.1:p.Arg1174=
ENST00000414786.6:n.3710G=
ENST00000445220.5:c.3504G=	ENSP00000489407.1:p.Arg1168=