Canonical Allele Identifier: CA2411007698

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720581G= , CM000684.2:g.50720581G=	GRCh38
NC_000022.10:g.51159009G= , CM000684.1:g.51159009G=	GRCh37
NC_000022.9:g.49505875G=	NCBI36
NG_008607.2:g.51227G=
NG_070230.1:g.56365G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2349G=	ENSP00000489147.2:p.Glu783=
ENST00000414786.7:n.2933G=
ENST00000445220.7:c.1401G=	ENSP00000489407.2:p.Glu467=
ENST00000664402.2:c.891G=	ENSP00000499475.1:p.Glu297=
ENST00000673971.2:c.*1347G=	ENSP00000501192.1:n.*1347G=
ENST00000445220.6:c.1401G=	ENSP00000489407.2:p.Glu467=
ENST00000262795.6:c.2349G=	ENSP00000489147.2:p.Glu783=
ENST00000664402.1:c.891G=	ENSP00000499475.1:p.Glu297=
ENST00000673971.1:c.*1347G=	ENSP00000501192.1:n.*1347G=
ENST00000262795.5:c.2745G=	ENSP00000489147.1:p.Glu915=
ENST00000414786.6:n.2933G=
ENST00000445220.5:c.2727G=	ENSP00000489407.1:p.Glu909=