Canonical Allele Identifier: CA2410995407

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697682G= , CM000684.2:g.50697682G=	GRCh38
NC_000022.10:g.51136110G= , CM000684.1:g.51136110G=	GRCh37
NC_000022.9:g.49482976G=	NCBI36
NG_008607.2:g.28328G=
NG_070230.1:g.33547G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1066G=	ENSP00000489147.2:p.Glu356=
ENST00000414786.7:n.1650G=
ENST00000445220.7:c.118G=	ENSP00000489407.2:p.Glu40=
ENST00000673971.2:c.1423G=	ENSP00000501192.1:p.Glu475=
ENST00000445220.6:c.118G=	ENSP00000489407.2:p.Glu40=
ENST00000262795.6:c.1066G=	ENSP00000489147.2:p.Glu356=
ENST00000673971.1:c.1423G=	ENSP00000501192.1:p.Glu475=
ENST00000673995.1:c.119G=
ENST00000262795.5:c.1462G=	ENSP00000489147.1:p.Glu488=
ENST00000414786.6:n.1650G=
ENST00000445220.5:c.1444G=	ENSP00000489407.1:p.Glu482=