Canonical Allele Identifier: CA2411008606

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722078G= , CM000684.2:g.50722078G=	GRCh38
NC_000022.10:g.51160506G= , CM000684.1:g.51160506G=	GRCh37
NC_000022.9:g.49507372G=	NCBI36
NG_008607.2:g.52724G=
NG_070230.1:g.57862G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3846G=	ENSP00000489147.2:p.Lys1282=
ENST00000414786.7:n.4430G=
ENST00000445220.7:c.2898G=	ENSP00000489407.2:p.Lys966=
ENST00000664402.2:c.2388G=	ENSP00000499475.1:p.Lys796=
ENST00000673971.2:c.*2844G=	ENSP00000501192.1:n.*2844G=
ENST00000445220.6:c.2898G=	ENSP00000489407.2:p.Lys966=
ENST00000262795.6:c.3846G=	ENSP00000489147.2:p.Lys1282=
ENST00000664402.1:c.2388G=	ENSP00000499475.1:p.Lys796=
ENST00000673971.1:c.*2844G=	ENSP00000501192.1:n.*2844G=
ENST00000262795.5:c.4242G=	ENSP00000489147.1:p.Lys1414=
ENST00000414786.6:n.4430G=
ENST00000445220.5:c.4224G=	ENSP00000489407.1:p.Lys1408=