Canonical Allele Identifier: CA2411008074

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721177G= , CM000684.2:g.50721177G=	GRCh38
NC_000022.10:g.51159605G= , CM000684.1:g.51159605G=	GRCh37
NC_000022.9:g.49506471G=	NCBI36
NG_008607.2:g.51823G=
NG_070230.1:g.56961G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2945G=	ENSP00000489147.2:p.Arg982=
ENST00000414786.7:n.3529G=
ENST00000445220.7:c.1997G=	ENSP00000489407.2:p.Arg666=
ENST00000664402.2:c.1487G=	ENSP00000499475.1:p.Arg496=
ENST00000673971.2:c.*1943G=	ENSP00000501192.1:n.*1943G=
ENST00000445220.6:c.1997G=	ENSP00000489407.2:p.Arg666=
ENST00000262795.6:c.2945G=	ENSP00000489147.2:p.Arg982=
ENST00000664402.1:c.1487G=	ENSP00000499475.1:p.Arg496=
ENST00000673971.1:c.*1943G=	ENSP00000501192.1:n.*1943G=
ENST00000262795.5:c.3341G=	ENSP00000489147.1:p.Arg1114=
ENST00000414786.6:n.3529G=
ENST00000445220.5:c.3323G=	ENSP00000489407.1:p.Arg1108=