Canonical Allele Identifier: CA2411007700

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720584A= , CM000684.2:g.50720584A=	GRCh38
NC_000022.10:g.51159012A= , CM000684.1:g.51159012A=	GRCh37
NC_000022.9:g.49505878A=	NCBI36
NG_008607.2:g.51230A=
NG_070230.1:g.56368A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2352A=	ENSP00000489147.2:p.Arg784=
ENST00000414786.7:n.2936A=
ENST00000445220.7:c.1404A=	ENSP00000489407.2:p.Arg468=
ENST00000664402.2:c.894A=	ENSP00000499475.1:p.Arg298=
ENST00000673971.2:c.*1350A=	ENSP00000501192.1:n.*1350A=
ENST00000445220.6:c.1404A=	ENSP00000489407.2:p.Arg468=
ENST00000262795.6:c.2352A=	ENSP00000489147.2:p.Arg784=
ENST00000664402.1:c.894A=	ENSP00000499475.1:p.Arg298=
ENST00000673971.1:c.*1350A=	ENSP00000501192.1:n.*1350A=
ENST00000262795.5:c.2748A=	ENSP00000489147.1:p.Arg916=
ENST00000414786.6:n.2936A=
ENST00000445220.5:c.2730A=	ENSP00000489407.1:p.Arg910=