Canonical Allele Identifier: CA2411008716

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722275G= , CM000684.2:g.50722275G=	GRCh38
NC_000022.10:g.51160703G= , CM000684.1:g.51160703G=	GRCh37
NC_000022.9:g.49507569G=	NCBI36
NG_008607.2:g.52921G=
NG_070230.1:g.58059G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4043G=	ENSP00000489147.2:p.Arg1348=
ENST00000414786.7:n.4627G=
ENST00000445220.7:c.3095G=	ENSP00000489407.2:p.Arg1032=
ENST00000664402.2:c.2585G=	ENSP00000499475.1:p.Arg862=
ENST00000673971.2:c.*3041G=	ENSP00000501192.1:n.*3041G=
ENST00000445220.6:c.3095G=	ENSP00000489407.2:p.Arg1032=
ENST00000262795.6:c.4043G=	ENSP00000489147.2:p.Arg1348=
ENST00000664402.1:c.2585G=	ENSP00000499475.1:p.Arg862=
ENST00000673971.1:c.*3041G=	ENSP00000501192.1:n.*3041G=
ENST00000262795.5:c.4439G=	ENSP00000489147.1:p.Arg1480=
ENST00000414786.6:n.4627G=
ENST00000445220.5:c.4421G=	ENSP00000489407.1:p.Arg1474=