Canonical Allele Identifier: CA2411007909

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720918T= , CM000684.2:g.50720918T=	GRCh38
NC_000022.10:g.51159346T= , CM000684.1:g.51159346T=	GRCh37
NC_000022.9:g.49506212T=	NCBI36
NG_008607.2:g.51564T=
NG_070230.1:g.56702T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2686T=	ENSP00000489147.2:p.Phe896=
ENST00000414786.7:n.3270T=
ENST00000445220.7:c.1738T=	ENSP00000489407.2:p.Phe580=
ENST00000664402.2:c.1228T=	ENSP00000499475.1:p.Phe410=
ENST00000673971.2:c.*1684T=	ENSP00000501192.1:n.*1684T=
ENST00000445220.6:c.1738T=	ENSP00000489407.2:p.Phe580=
ENST00000262795.6:c.2686T=	ENSP00000489147.2:p.Phe896=
ENST00000664402.1:c.1228T=	ENSP00000499475.1:p.Phe410=
ENST00000673971.1:c.*1684T=	ENSP00000501192.1:n.*1684T=
ENST00000262795.5:c.3082T=	ENSP00000489147.1:p.Phe1028=
ENST00000414786.6:n.3270T=
ENST00000445220.5:c.3064T=	ENSP00000489407.1:p.Phe1022=