Canonical Allele Identifier: CA2411007906

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720913C= , CM000684.2:g.50720913C=	GRCh38
NC_000022.10:g.51159341C= , CM000684.1:g.51159341C=	GRCh37
NC_000022.9:g.49506207C=	NCBI36
NG_008607.2:g.51559C=
NG_070230.1:g.56697C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2681C=	ENSP00000489147.2:p.Thr894=
ENST00000414786.7:n.3265C=
ENST00000445220.7:c.1733C=	ENSP00000489407.2:p.Thr578=
ENST00000664402.2:c.1223C=	ENSP00000499475.1:p.Thr408=
ENST00000673971.2:c.*1679C=	ENSP00000501192.1:n.*1679C=
ENST00000445220.6:c.1733C=	ENSP00000489407.2:p.Thr578=
ENST00000262795.6:c.2681C=	ENSP00000489147.2:p.Thr894=
ENST00000664402.1:c.1223C=	ENSP00000499475.1:p.Thr408=
ENST00000673971.1:c.*1679C=	ENSP00000501192.1:n.*1679C=
ENST00000262795.5:c.3077C=	ENSP00000489147.1:p.Thr1026=
ENST00000414786.6:n.3265C=
ENST00000445220.5:c.3059C=	ENSP00000489407.1:p.Thr1020=