Canonical Allele Identifier: CA2411007697

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720578C= , CM000684.2:g.50720578C=	GRCh38
NC_000022.10:g.51159006C= , CM000684.1:g.51159006C=	GRCh37
NC_000022.9:g.49505872C=	NCBI36
NG_008607.2:g.51224C=
NG_070230.1:g.56362C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2346C=	ENSP00000489147.2:p.Pro782=
ENST00000414786.7:n.2930C=
ENST00000445220.7:c.1398C=	ENSP00000489407.2:p.Pro466=
ENST00000664402.2:c.888C=	ENSP00000499475.1:p.Pro296=
ENST00000673971.2:c.*1344C=	ENSP00000501192.1:n.*1344C=
ENST00000445220.6:c.1398C=	ENSP00000489407.2:p.Pro466=
ENST00000262795.6:c.2346C=	ENSP00000489147.2:p.Pro782=
ENST00000664402.1:c.888C=	ENSP00000499475.1:p.Pro296=
ENST00000673971.1:c.*1344C=	ENSP00000501192.1:n.*1344C=
ENST00000262795.5:c.2742C=	ENSP00000489147.1:p.Pro914=
ENST00000414786.6:n.2930C=
ENST00000445220.5:c.2724C=	ENSP00000489407.1:p.Pro908=