Canonical Allele Identifier: CA2411008647

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722154G= , CM000684.2:g.50722154G=	GRCh38
NC_000022.10:g.51160582G= , CM000684.1:g.51160582G=	GRCh37
NC_000022.9:g.49507448G=	NCBI36
NG_008607.2:g.52800G=
NG_070230.1:g.57938G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3922G=	ENSP00000489147.2:p.Glu1308=
ENST00000414786.7:n.4506G=
ENST00000445220.7:c.2974G=	ENSP00000489407.2:p.Glu992=
ENST00000664402.2:c.2464G=	ENSP00000499475.1:p.Glu822=
ENST00000673971.2:c.*2920G=	ENSP00000501192.1:n.*2920G=
ENST00000445220.6:c.2974G=	ENSP00000489407.2:p.Glu992=
ENST00000262795.6:c.3922G=	ENSP00000489147.2:p.Glu1308=
ENST00000664402.1:c.2464G=	ENSP00000499475.1:p.Glu822=
ENST00000673971.1:c.*2920G=	ENSP00000501192.1:n.*2920G=
ENST00000262795.5:c.4318G=	ENSP00000489147.1:p.Glu1440=
ENST00000414786.6:n.4506G=
ENST00000445220.5:c.4300G=	ENSP00000489407.1:p.Glu1434=