Canonical Allele Identifier: CA2411008689

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722218G= , CM000684.2:g.50722218G=	GRCh38
NC_000022.10:g.51160646G= , CM000684.1:g.51160646G=	GRCh37
NC_000022.9:g.49507512G=	NCBI36
NG_008607.2:g.52864G=
NG_070230.1:g.58002G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3986G=	ENSP00000489147.2:p.Arg1329=
ENST00000414786.7:n.4570G=
ENST00000445220.7:c.3038G=	ENSP00000489407.2:p.Arg1013=
ENST00000664402.2:c.2528G=	ENSP00000499475.1:p.Arg843=
ENST00000673971.2:c.*2984G=	ENSP00000501192.1:n.*2984G=
ENST00000445220.6:c.3038G=	ENSP00000489407.2:p.Arg1013=
ENST00000262795.6:c.3986G=	ENSP00000489147.2:p.Arg1329=
ENST00000664402.1:c.2528G=	ENSP00000499475.1:p.Arg843=
ENST00000673971.1:c.*2984G=	ENSP00000501192.1:n.*2984G=
ENST00000262795.5:c.4382G=	ENSP00000489147.1:p.Arg1461=
ENST00000414786.6:n.4570G=
ENST00000445220.5:c.4364G=	ENSP00000489407.1:p.Arg1455=