Canonical Allele Identifier: CA2411008298

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721517A= , CM000684.2:g.50721517A=	GRCh38
NC_000022.10:g.51159945A= , CM000684.1:g.51159945A=	GRCh37
NC_000022.9:g.49506811A=	NCBI36
NG_008607.2:g.52163A=
NG_070230.1:g.57301A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3285A=	ENSP00000489147.2:p.Glu1095=
ENST00000414786.7:n.3869A=
ENST00000445220.7:c.2337A=	ENSP00000489407.2:p.Glu779=
ENST00000664402.2:c.1827A=	ENSP00000499475.1:p.Glu609=
ENST00000673971.2:c.*2283A=	ENSP00000501192.1:n.*2283A=
ENST00000445220.6:c.2337A=	ENSP00000489407.2:p.Glu779=
ENST00000262795.6:c.3285A=	ENSP00000489147.2:p.Glu1095=
ENST00000664402.1:c.1827A=	ENSP00000499475.1:p.Glu609=
ENST00000673971.1:c.*2283A=	ENSP00000501192.1:n.*2283A=
ENST00000262795.5:c.3681A=	ENSP00000489147.1:p.Glu1227=
ENST00000414786.6:n.3869A=
ENST00000445220.5:c.3663A=	ENSP00000489407.1:p.Glu1221=