Canonical Allele Identifier: CA2411007784

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720735G= , CM000684.2:g.50720735G=	GRCh38
NC_000022.10:g.51159163G= , CM000684.1:g.51159163G=	GRCh37
NC_000022.9:g.49506029G=	NCBI36
NG_008607.2:g.51381G=
NG_070230.1:g.56519G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2503G=	ENSP00000489147.2:p.Ala835=
ENST00000414786.7:n.3087G=
ENST00000445220.7:c.1555G=	ENSP00000489407.2:p.Ala519=
ENST00000664402.2:c.1045G=	ENSP00000499475.1:p.Ala349=
ENST00000673971.2:c.*1501G=	ENSP00000501192.1:n.*1501G=
ENST00000445220.6:c.1555G=	ENSP00000489407.2:p.Ala519=
ENST00000262795.6:c.2503G=	ENSP00000489147.2:p.Ala835=
ENST00000664402.1:c.1045G=	ENSP00000499475.1:p.Ala349=
ENST00000673971.1:c.*1501G=	ENSP00000501192.1:n.*1501G=
ENST00000262795.5:c.2899G=	ENSP00000489147.1:p.Ala967=
ENST00000414786.6:n.3087G=
ENST00000445220.5:c.2881G=	ENSP00000489407.1:p.Ala961=